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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: 16-57656244-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57656244&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57656244,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000562631.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_201525.4",
"protein_id": "NP_958933.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "ENST00000562631.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000562631.7",
"protein_id": "ENSP00000455351.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "NM_201525.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000567835.5",
"protein_id": "ENSP00000456794.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000388813.9",
"protein_id": "ENSP00000373465.5",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000540164.6",
"protein_id": "ENSP00000444911.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000568908.5",
"protein_id": "ENSP00000457456.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001145771.3",
"protein_id": "NP_001139243.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001370428.1",
"protein_id": "NP_001357357.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001370429.1",
"protein_id": "NP_001357358.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001370430.1",
"protein_id": "NP_001357359.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001370431.1",
"protein_id": "NP_001357360.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001370432.1",
"protein_id": "NP_001357361.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_005682.7",
"protein_id": "NP_005673.3",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000565976.6",
"protein_id": "ENSP00000454933.2",
"transcript_support_level": 2,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
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"cdna_start": 1329,
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"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000568909.5",
"protein_id": "ENSP00000455215.1",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 693,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "ENST00000673126.2",
"protein_id": "ENSP00000500185.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
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"cds_start": 1036,
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"cdna_start": 1248,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1051T>A",
"hgvs_p": "p.Cys351Ser",
"transcript": "NM_001145773.3",
"protein_id": "NP_001139245.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 692,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1051T>A",
"hgvs_p": "p.Cys351Ser",
"transcript": "NM_001370433.1",
"protein_id": "NP_001357362.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 692,
"cds_start": 1051,
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"cds_length": 2079,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1033T>A",
"hgvs_p": "p.Cys345Ser",
"transcript": "NM_001370434.1",
"protein_id": "NP_001357363.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1051T>A",
"hgvs_p": "p.Cys351Ser",
"transcript": "ENST00000456916.5",
"protein_id": "ENSP00000398034.2",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 692,
"cds_start": 1051,
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"cdna_start": 1382,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001145770.3",
"protein_id": "NP_001139242.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1036T>A",
"hgvs_p": "p.Cys346Ser",
"transcript": "NM_001145772.3",
"protein_id": "NP_001139244.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 687,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
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],
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Bilateral frontoparietal polymicrogyria",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Bilateral frontoparietal polymicrogyria",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}