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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: 19-7619950-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7619950&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7619950,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020196.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Met",
"transcript": "NM_020196.3",
"protein_id": "NP_064581.2",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 855,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358368.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020196.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Met",
"transcript": "ENST00000358368.5",
"protein_id": "ENSP00000351137.3",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 855,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020196.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358368.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Val808Met",
"transcript": "ENST00000925818.1",
"protein_id": "ENSP00000595877.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 865,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925818.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Met",
"transcript": "ENST00000925815.1",
"protein_id": "ENSP00000595874.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 854,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925815.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2389G>A",
"hgvs_p": "p.Val797Met",
"transcript": "ENST00000925816.1",
"protein_id": "ENSP00000595875.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 854,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925816.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2389G>A",
"hgvs_p": "p.Val797Met",
"transcript": "ENST00000925817.1",
"protein_id": "ENSP00000595876.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 854,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925817.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Val791Met",
"transcript": "ENST00000925819.1",
"protein_id": "ENSP00000595878.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 848,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925819.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2359G>A",
"hgvs_p": "p.Val787Met",
"transcript": "ENST00000855698.1",
"protein_id": "ENSP00000525757.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 844,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855698.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2332G>A",
"hgvs_p": "p.Val778Met",
"transcript": "ENST00000855697.1",
"protein_id": "ENSP00000525756.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 835,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855697.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2311G>A",
"hgvs_p": "p.Val771Met",
"transcript": "ENST00000855700.1",
"protein_id": "ENSP00000525759.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 828,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855700.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2257G>A",
"hgvs_p": "p.Val753Met",
"transcript": "ENST00000925821.1",
"protein_id": "ENSP00000595880.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 810,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925821.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Met",
"transcript": "ENST00000855699.1",
"protein_id": "ENSP00000525758.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 789,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855699.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Val698Met",
"transcript": "ENST00000925820.1",
"protein_id": "ENSP00000595879.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 755,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925820.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Val541Met",
"transcript": "ENST00000855701.1",
"protein_id": "ENSP00000525760.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 598,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2387+5G>A",
"hgvs_p": null,
"transcript": "ENST00000855696.1",
"protein_id": "ENSP00000525755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": null,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "n.4220G>A",
"hgvs_p": null,
"transcript": "ENST00000595288.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000595288.5"
}
],
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"dbsnp": "rs760547666",
"frequency_reference_population": 0.000012413386,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000010967,
"gnomad_genomes_af": 0.0000262743,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44937217235565186,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.8962,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.627,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020196.3",
"gene_symbol": "XAB2",
"hgnc_id": 14089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Met"
}
],
"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
}