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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: 14-74299649-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74299649&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74299649,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000356924.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_005050.4",
"protein_id": "NP_005041.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 606,
"cds_start": 184,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": "ENST00000356924.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000356924.9",
"protein_id": "ENSP00000349396.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 606,
"cds_start": 184,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": "NM_005050.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.65T>G",
"hgvs_p": null,
"transcript": "ENST00000469672.5",
"protein_id": "ENSP00000434626.1",
"transcript_support_level": 1,
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.157+501T>G",
"hgvs_p": null,
"transcript": "ENST00000460308.6",
"protein_id": "ENSP00000436527.2",
"transcript_support_level": 1,
"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": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.157+501T>G",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"transcript_support_level": 1,
"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": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_020325.3",
"protein_id": "NP_064730.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 592,
"cds_start": 184,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001440752.1",
"protein_id": "NP_001427681.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 572,
"cds_start": 184,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001353591.2",
"protein_id": "NP_001340520.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 564,
"cds_start": 184,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001353592.2",
"protein_id": "NP_001340521.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 550,
"cds_start": 184,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001440753.1",
"protein_id": "NP_001427682.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 528,
"cds_start": 184,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.61T>G",
"hgvs_p": "p.Leu21Val",
"transcript": "ENST00000556971.1",
"protein_id": "ENSP00000451770.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 204,
"cds_start": 61,
"cds_end": null,
"cds_length": 615,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000557588.5",
"protein_id": "ENSP00000451993.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 203,
"cds_start": 184,
"cds_end": null,
"cds_length": 612,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "XM_047431639.1",
"protein_id": "XP_047287595.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 474,
"cds_start": 184,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "XM_047431640.1",
"protein_id": "XP_047287596.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 458,
"cds_start": 184,
"cds_end": null,
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"cdna_start": 206,
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"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.259T>G",
"hgvs_p": null,
"transcript": "ENST00000477803.5",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.148T>G",
"hgvs_p": null,
"transcript": "ENST00000493427.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 736,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.248T>G",
"hgvs_p": null,
"transcript": "ENST00000493752.5",
"protein_id": null,
"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": 719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.65T>G",
"hgvs_p": null,
"transcript": "ENST00000553745.5",
"protein_id": "ENSP00000451778.1",
"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,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.65T>G",
"hgvs_p": null,
"transcript": "ENST00000555617.5",
"protein_id": "ENSP00000451521.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 542,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.65T>G",
"hgvs_p": null,
"transcript": "ENST00000556119.5",
"protein_id": "ENSP00000450491.1",
"transcript_support_level": 5,
"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": 838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.269T>G",
"hgvs_p": null,
"transcript": "ENST00000557554.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.206T>G",
"hgvs_p": null,
"transcript": "NR_148466.2",
"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": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.206T>G",
"hgvs_p": null,
"transcript": "NR_148469.2",
"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": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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}