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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: 2-177493170-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177493170&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177493170,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264167.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "NM_003659.4",
"protein_id": "NP_003650.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 658,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 7633,
"mane_select": "ENST00000264167.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000264167.11",
"protein_id": "ENSP00000264167.4",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 658,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 7633,
"mane_select": "NM_003659.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000642466.2",
"protein_id": "ENSP00000494433.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 676,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000679459.1",
"protein_id": "ENSP00000506137.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 638,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000637633.2",
"protein_id": "ENSP00000490844.2",
"transcript_support_level": 5,
"aa_start": 419,
"aa_end": null,
"aa_length": 629,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000680770.1",
"protein_id": "ENSP00000505536.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 624,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"transcript": "ENST00000679478.1",
"protein_id": "ENSP00000506484.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 568,
"cds_start": 986,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"transcript": "ENST00000679994.1",
"protein_id": "ENSP00000504957.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 568,
"cds_start": 986,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"transcript": "ENST00000680155.1",
"protein_id": "ENSP00000505333.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 568,
"cds_start": 986,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 7318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"transcript": "ENST00000681449.1",
"protein_id": "ENSP00000505342.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 568,
"cds_start": 986,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"transcript": "XM_011512041.3",
"protein_id": "XP_011510343.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 568,
"cds_start": 986,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 7426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"transcript": "XM_047446104.1",
"protein_id": "XP_047302060.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 568,
"cds_start": 986,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 7461,
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.2485G>A",
"hgvs_p": null,
"transcript": "ENST00000679421.1",
"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": 8603,
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.2620G>A",
"hgvs_p": null,
"transcript": "ENST00000680028.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8738,
"mane_select": null,
"mane_plus": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.291G>A",
"hgvs_p": null,
"transcript": "ENST00000680390.1",
"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,
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"cdna_length": 2250,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.1300G>A",
"hgvs_p": null,
"transcript": "ENST00000680705.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.*504G>A",
"hgvs_p": null,
"transcript": "ENST00000680893.1",
"protein_id": "ENSP00000505929.1",
"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,
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"cdna_length": 7408,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.1286G>A",
"hgvs_p": null,
"transcript": "ENST00000680910.1",
"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": 1658,
"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": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.986G>A",
"hgvs_p": null,
"transcript": "ENST00000681028.1",
"protein_id": "ENSP00000506323.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3257,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.*634G>A",
"hgvs_p": null,
"transcript": "ENST00000681032.1",
"protein_id": "ENSP00000505205.1",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.211G>A",
"hgvs_p": null,
"transcript": "ENST00000681300.1",
"protein_id": null,
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"aa_start": null,
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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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.*389G>A",
"hgvs_p": null,
"transcript": "ENST00000681565.1",
"protein_id": "ENSP00000505620.1",
"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": 7784,
"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": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.*1026G>A",
"hgvs_p": null,
"transcript": "ENST00000681752.1",
"protein_id": "ENSP00000504994.1",
"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,
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"cdna_length": 7556,
"mane_select": null,
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],
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"computational_score_selected": 0.9719719886779785,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_score": 0.929,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9891,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.705,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_classification": "Pathogenic",
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{
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"PP3_Strong",
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"verdict": "Pathogenic",
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"effects": [
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],
"clinvar_disease": "Rhizomelic chondrodysplasia punctata type 3",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Rhizomelic chondrodysplasia punctata type 3",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}