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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-30665578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=30665578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 30665578,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001205019.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "NM_001205019.2",
"protein_id": "NP_001191948.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 559,
"cds_start": 146,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "ENST00000427190.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "ENST00000427190.6",
"protein_id": "ENSP00000401720.2",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 559,
"cds_start": 146,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "NM_001205019.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "ENST00000378943.7",
"protein_id": "ENSP00000368226.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 553,
"cds_start": 146,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "ENST00000378946.7",
"protein_id": "ENSP00000368229.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 530,
"cds_start": 146,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "ENST00000378945.7",
"protein_id": "ENSP00000368228.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 524,
"cds_start": 146,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "NM_001437590.1",
"protein_id": "NP_001424519.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 581,
"cds_start": 146,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "ENST00000692461.1",
"protein_id": "ENSP00000509378.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 581,
"cds_start": 146,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "NM_001128127.3",
"protein_id": "NP_001121599.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 553,
"cds_start": 146,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "NM_001399987.1",
"protein_id": "NP_001386916.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 552,
"cds_start": 146,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "NM_203391.4",
"protein_id": "NP_976325.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 530,
"cds_start": 146,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "NM_000167.6",
"protein_id": "NP_000158.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 524,
"cds_start": 146,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "ENST00000378941.4",
"protein_id": "ENSP00000368224.3",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 118,
"cds_start": 146,
"cds_end": null,
"cds_length": 357,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "XM_011545491.3",
"protein_id": "XP_011543793.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 587,
"cds_start": 146,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys",
"transcript": "XM_011545492.2",
"protein_id": "XP_011543794.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 558,
"cds_start": 146,
"cds_end": null,
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"cdna_start": 261,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.146G>A",
"hgvs_p": null,
"transcript": "ENST00000471362.5",
"protein_id": "ENSP00000417942.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.146G>A",
"hgvs_p": null,
"transcript": "ENST00000479048.6",
"protein_id": "ENSP00000420676.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.146G>A",
"hgvs_p": null,
"transcript": "ENST00000481024.5",
"protein_id": "ENSP00000418873.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.261G>A",
"hgvs_p": null,
"transcript": "NR_174369.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.261G>A",
"hgvs_p": null,
"transcript": "NR_174370.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.261G>A",
"hgvs_p": null,
"transcript": "NR_174373.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.79-11797G>A",
"hgvs_p": null,
"transcript": "ENST00000487652.5",
"protein_id": "ENSP00000419332.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.194-11797G>A",
"hgvs_p": null,
"transcript": "NR_174371.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.194-11797G>A",
"hgvs_p": null,
"transcript": "NR_174372.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.194-11797G>A",
"hgvs_p": null,
"transcript": "NR_174374.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "n.194-11797G>A",
"hgvs_p": null,
"transcript": "NR_174375.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"dbsnp": "rs969090124",
"frequency_reference_population": 0.0000046377113,
"hom_count_reference_population": 2,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.000004142,
"gnomad_genomes_af": 0.0000088968,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06057807803153992,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.073,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.215,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001205019.2",
"gene_symbol": "GK",
"hgnc_id": 4289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,XL",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Lys"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}