← Back to variant description
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: 19-10637719-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10637719&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10637719,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000335757.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.Lys556Ile",
"transcript": "NM_020428.4",
"protein_id": "NP_065161.3",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 706,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "ENST00000335757.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.Lys556Ile",
"transcript": "ENST00000335757.10",
"protein_id": "ENSP00000336888.4",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 706,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "NM_020428.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1661A>T",
"hgvs_p": "p.Lys554Ile",
"transcript": "ENST00000407327.8",
"protein_id": "ENSP00000385135.3",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 704,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.Lys556Ile",
"transcript": "NM_001363611.2",
"protein_id": "NP_001350540.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 711,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.Lys556Ile",
"transcript": "ENST00000586078.5",
"protein_id": "ENSP00000466664.1",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 711,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1661A>T",
"hgvs_p": "p.Lys554Ile",
"transcript": "NM_001145056.2",
"protein_id": "NP_001138528.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 704,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.74A>T",
"hgvs_p": "p.Lys25Ile",
"transcript": "ENST00000591194.5",
"protein_id": "ENSP00000466575.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 123,
"cds_start": 74,
"cds_end": null,
"cds_length": 372,
"cdna_start": 76,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.Lys556Ile",
"transcript": "XM_047439112.1",
"protein_id": "XP_047295068.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 711,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.1661A>T",
"hgvs_p": "p.Lys554Ile",
"transcript": "XM_047439113.1",
"protein_id": "XP_047295069.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 709,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3745,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.317A>T",
"hgvs_p": null,
"transcript": "ENST00000588214.1",
"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,
"cdna_end": null,
"cdna_length": 598,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.953A>T",
"hgvs_p": null,
"transcript": "ENST00000589561.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.-26A>T",
"hgvs_p": null,
"transcript": "ENST00000586549.1",
"protein_id": "ENSP00000468812.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.*17A>T",
"hgvs_p": null,
"transcript": "ENST00000588393.5",
"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,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"dbsnp": "rs374709380",
"frequency_reference_population": 0.000006815779,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000478833,
"gnomad_genomes_af": 0.0000263134,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.760645866394043,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.314,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8511,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.608,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000335757.10",
"gene_symbol": "SLC44A2",
"hgnc_id": 17292,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.Lys556Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}