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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: 1-202941699-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202941699&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202941699,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_015999.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.*217C>T",
"hgvs_p": null,
"transcript": "ENST00000367254.7",
"protein_id": "ENSP00000356223.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367254.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "NM_015999.6",
"protein_id": "NP_057083.2",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340990.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015999.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000340990.10",
"protein_id": "ENSP00000341785.5",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015999.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340990.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.*217C>T",
"hgvs_p": null,
"transcript": "ENST00000367254.7",
"protein_id": "ENSP00000356223.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367254.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "NM_001290553.2",
"protein_id": "NP_001277482.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290553.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "NM_001290557.1",
"protein_id": "NP_001277486.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290557.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "NM_001290629.1",
"protein_id": "NP_001277558.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290629.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000855702.1",
"protein_id": "ENSP00000525761.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855702.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000855703.1",
"protein_id": "ENSP00000525762.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855703.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000855706.1",
"protein_id": "ENSP00000525765.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855706.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000855707.1",
"protein_id": "ENSP00000525766.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855707.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000855708.1",
"protein_id": "ENSP00000525767.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855708.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000855710.1",
"protein_id": "ENSP00000525769.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855710.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000940207.1",
"protein_id": "ENSP00000610266.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940207.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000942961.1",
"protein_id": "ENSP00000613020.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942961.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000942962.1",
"protein_id": "ENSP00000613021.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942962.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000942965.1",
"protein_id": "ENSP00000613024.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942965.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000942966.1",
"protein_id": "ENSP00000613025.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942966.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Phe334Phe",
"transcript": "ENST00000942967.1",
"protein_id": "ENSP00000613026.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942967.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.993C>T",
"hgvs_p": "p.Phe331Phe",
"transcript": "ENST00000942960.1",
"protein_id": "ENSP00000613019.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 372,
"cds_start": 993,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942960.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADIPOR1",
"gene_hgnc_id": 24040,
"hgvs_c": "c.981C>T",
"hgvs_p": "p.Phe327Phe",
"transcript": "ENST00000855709.1",
"protein_id": "ENSP00000525768.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 368,
"cds_start": 981,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855709.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.36,
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"phylop100way_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
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"criteria": [
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"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
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"effects": [
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}