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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: 19-7620283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7620283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7620283,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020196.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Thr753Met",
"transcript": "NM_020196.3",
"protein_id": "NP_064581.2",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 855,
"cds_start": 2258,
"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": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Thr753Met",
"transcript": "ENST00000358368.5",
"protein_id": "ENSP00000351137.3",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 855,
"cds_start": 2258,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Thr763Met",
"transcript": "ENST00000925818.1",
"protein_id": "ENSP00000595877.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 865,
"cds_start": 2288,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Thr753Met",
"transcript": "ENST00000925815.1",
"protein_id": "ENSP00000595874.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 854,
"cds_start": 2258,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2255C>T",
"hgvs_p": "p.Thr752Met",
"transcript": "ENST00000925816.1",
"protein_id": "ENSP00000595875.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 854,
"cds_start": 2255,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2255C>T",
"hgvs_p": "p.Thr752Met",
"transcript": "ENST00000925817.1",
"protein_id": "ENSP00000595876.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 854,
"cds_start": 2255,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Thr753Met",
"transcript": "ENST00000855696.1",
"protein_id": "ENSP00000525755.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 852,
"cds_start": 2258,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2237C>T",
"hgvs_p": "p.Thr746Met",
"transcript": "ENST00000925819.1",
"protein_id": "ENSP00000595878.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 848,
"cds_start": 2237,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2225C>T",
"hgvs_p": "p.Thr742Met",
"transcript": "ENST00000855698.1",
"protein_id": "ENSP00000525757.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 844,
"cds_start": 2225,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2198C>T",
"hgvs_p": "p.Thr733Met",
"transcript": "ENST00000855697.1",
"protein_id": "ENSP00000525756.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 835,
"cds_start": 2198,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Met",
"transcript": "ENST00000855700.1",
"protein_id": "ENSP00000525759.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 828,
"cds_start": 2177,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Thr708Met",
"transcript": "ENST00000925821.1",
"protein_id": "ENSP00000595880.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 810,
"cds_start": 2123,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.2060C>T",
"hgvs_p": "p.Thr687Met",
"transcript": "ENST00000855699.1",
"protein_id": "ENSP00000525758.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 789,
"cds_start": 2060,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Thr653Met",
"transcript": "ENST00000925820.1",
"protein_id": "ENSP00000595879.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 755,
"cds_start": 1958,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "c.1487C>T",
"hgvs_p": "p.Thr496Met",
"transcript": "ENST00000855701.1",
"protein_id": "ENSP00000525760.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 598,
"cds_start": 1487,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "n.4086C>T",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"hgvs_c": "n.741C>T",
"hgvs_p": null,
"transcript": "ENST00000600230.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000600230.1"
}
],
"gene_symbol": "XAB2",
"gene_hgnc_id": 14089,
"dbsnp": "rs369409872",
"frequency_reference_population": 0.00005021288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 81,
"gnomad_exomes_af": 0.0000513379,
"gnomad_genomes_af": 0.0000394161,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5394556522369385,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
"alphamissense_score": 0.1198,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.135,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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.2258C>T",
"hgvs_p": "p.Thr753Met"
}
],
"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
}