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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: 7-143876103-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=143876103&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 143876103,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014719.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "NM_014719.3",
"protein_id": "NP_055534.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": "ENST00000479870.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014719.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000479870.6",
"protein_id": "ENSP00000419235.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": "NM_014719.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479870.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000355951.2",
"protein_id": "ENSP00000348220.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 919,
"cds_start": 506,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355951.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000872784.1",
"protein_id": "ENSP00000542843.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872784.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000872785.1",
"protein_id": "ENSP00000542844.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872785.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000872786.1",
"protein_id": "ENSP00000542845.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872786.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000872787.1",
"protein_id": "ENSP00000542846.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872787.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000963297.1",
"protein_id": "ENSP00000633356.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963297.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "NM_001206938.2",
"protein_id": "NP_001193867.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 919,
"cds_start": 506,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206938.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "XM_005250074.5",
"protein_id": "XP_005250131.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250074.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "XM_005250075.4",
"protein_id": "XP_005250132.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250075.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "XM_005250076.5",
"protein_id": "XP_005250133.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250076.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "XM_005250077.3",
"protein_id": "XP_005250134.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 5832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250077.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "XM_006716191.3",
"protein_id": "XP_006716254.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 921,
"cds_start": 506,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716191.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.-653+9107C>T",
"hgvs_p": null,
"transcript": "NM_001206941.2",
"protein_id": "NP_001193870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206941.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "n.62+9107C>T",
"hgvs_p": null,
"transcript": "ENST00000392900.3",
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000392900.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.*5C>T",
"hgvs_p": null,
"transcript": "ENST00000460532.5",
"protein_id": "ENSP00000420607.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460532.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.*56C>T",
"hgvs_p": null,
"transcript": "ENST00000491908.1",
"protein_id": "ENSP00000417600.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.*69C>T",
"hgvs_p": null,
"transcript": "ENST00000478172.1",
"protein_id": "ENSP00000419622.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478172.1"
}
],
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"dbsnp": "rs144423231",
"frequency_reference_population": 0.000059475355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000615695,
"gnomad_genomes_af": 0.0000393825,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12581190466880798,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1003,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.261,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014719.3",
"gene_symbol": "TCAF1",
"hgnc_id": 22201,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met"
}
],
"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
}