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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: 16-57651247-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57651247&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57651247,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000562631.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_201525.4",
"protein_id": "NP_958933.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 687,
"cds_start": 112,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "ENST00000562631.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000562631.7",
"protein_id": "ENSP00000455351.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 687,
"cds_start": 112,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "NM_201525.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000567835.5",
"protein_id": "ENSP00000456794.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000388813.9",
"protein_id": "ENSP00000373465.5",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 687,
"cds_start": 112,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000540164.6",
"protein_id": "ENSP00000444911.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 687,
"cds_start": 112,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000568908.5",
"protein_id": "ENSP00000457456.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 687,
"cds_start": 112,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Ser51Arg",
"transcript": "ENST00000569154.5",
"protein_id": "ENSP00000456544.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 153,
"cds_end": null,
"cds_length": 355,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Ser51Arg",
"transcript": "ENST00000565770.5",
"protein_id": "ENSP00000456603.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 89,
"cds_start": 153,
"cds_end": null,
"cds_length": 270,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.116C>A",
"hgvs_p": "p.Ala39Glu",
"transcript": "ENST00000568791.5",
"protein_id": "ENSP00000454321.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 80,
"cds_start": 116,
"cds_end": null,
"cds_length": 244,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.116C>A",
"hgvs_p": "p.Ala39Glu",
"transcript": "ENST00000563374.5",
"protein_id": "ENSP00000455209.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 77,
"cds_start": 116,
"cds_end": null,
"cds_length": 236,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-414C>A",
"hgvs_p": null,
"transcript": "NM_001370454.1",
"protein_id": "NP_001357383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.69C>A",
"hgvs_p": "p.Ser23Arg",
"transcript": "ENST00000566508.5",
"protein_id": "ENSP00000454779.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 96,
"cds_start": 69,
"cds_end": null,
"cds_length": 291,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_001145771.3",
"protein_id": "NP_001139243.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_001370428.1",
"protein_id": "NP_001357357.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_001370429.1",
"protein_id": "NP_001357358.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_001370430.1",
"protein_id": "NP_001357359.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_001370431.1",
"protein_id": "NP_001357360.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_001370432.1",
"protein_id": "NP_001357361.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "NM_005682.7",
"protein_id": "NP_005673.3",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000565976.6",
"protein_id": "ENSP00000454933.2",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000568909.5",
"protein_id": "ENSP00000455215.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Arg38Arg",
"transcript": "ENST00000673126.2",
"protein_id": "ENSP00000500185.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 693,
"cds_start": 112,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "NM_001145773.3",
"protein_id": "NP_001139245.1",
"transcript_support_level": null,
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}