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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: 19-38422124-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38422124&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38422124,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000615439.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_170604.3",
"protein_id": "NP_733749.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 673,
"cds_start": 53,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "ENST00000615439.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000615439.5",
"protein_id": "ENSP00000479844.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 673,
"cds_start": 53,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "NM_170604.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000587738.2",
"protein_id": "ENSP00000465772.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 673,
"cds_start": 53,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000586305.5",
"protein_id": "ENSP00000467604.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 659,
"cds_start": 53,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000454404.6",
"protein_id": "ENSP00000416463.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 639,
"cds_start": 53,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000587753.5",
"protein_id": "ENSP00000468483.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 604,
"cds_start": 53,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000614135.4",
"protein_id": "ENSP00000479078.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 581,
"cds_start": 53,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000617966.4",
"protein_id": "ENSP00000479888.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 576,
"cds_start": 53,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000622174.4",
"protein_id": "ENSP00000484345.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 484,
"cds_start": 53,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.53T>C",
"hgvs_p": null,
"transcript": "ENST00000589358.5",
"protein_id": "ENSP00000465742.1",
"transcript_support_level": 5,
"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": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.53T>C",
"hgvs_p": null,
"transcript": "ENST00000589474.5",
"protein_id": "ENSP00000466928.1",
"transcript_support_level": 5,
"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": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_001146202.2",
"protein_id": "NP_001139674.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 659,
"cds_start": 53,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_001146205.2",
"protein_id": "NP_001139677.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 639,
"cds_start": 53,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_001146204.2",
"protein_id": "NP_001139676.1",
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"aa_start": 18,
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"cds_start": 53,
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"cdna_start": 181,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_001146203.2",
"protein_id": "NP_001139675.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 581,
"cds_start": 53,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_001146207.2",
"protein_id": "NP_001139679.1",
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"cdna_start": 181,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_001146206.2",
"protein_id": "NP_001139678.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 484,
"cds_start": 53,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 2565,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.267T>C",
"hgvs_p": null,
"transcript": "ENST00000588404.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2749,
"mane_select": null,
"mane_plus": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.159T>C",
"hgvs_p": null,
"transcript": "ENST00000589100.2",
"protein_id": null,
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"feature": null
},
{
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"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": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.267T>C",
"hgvs_p": null,
"transcript": "ENST00000592322.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.159T>C",
"hgvs_p": null,
"transcript": "ENST00000615340.4",
"protein_id": null,
"transcript_support_level": 5,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"hgvs_c": "n.181T>C",
"hgvs_p": null,
"transcript": "XR_935732.3",
"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": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RASGRP4",
"gene_hgnc_id": 18958,
"dbsnp": "rs892055",
"frequency_reference_population": 0.38557693,
"hom_count_reference_population": 125314,
"allele_count_reference_population": 621048,
"gnomad_exomes_af": 0.379915,
"gnomad_genomes_af": 0.439952,
"gnomad_exomes_ac": 554222,
"gnomad_genomes_ac": 66826,
"gnomad_exomes_homalt": 109572,
"gnomad_genomes_homalt": 15742,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000191703384189168,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.84,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000615439.5",
"gene_symbol": "RASGRP4",
"hgnc_id": 18958,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}