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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: 6-30590190-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30590190&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30590190,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001025091.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Trp",
"transcript": "NM_001025091.2",
"protein_id": "NP_001020262.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 845,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326195.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025091.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Trp",
"transcript": "ENST00000326195.13",
"protein_id": "ENSP00000313603.8",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 845,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001025091.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326195.13"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Trp",
"transcript": "ENST00000376545.7",
"protein_id": "ENSP00000365728.3",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 807,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376545.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "n.1525C>T",
"hgvs_p": null,
"transcript": "ENST00000475993.1",
"protein_id": "ENSP00000445100.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000475993.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2374C>T",
"hgvs_p": "p.Arg792Trp",
"transcript": "ENST00000915359.1",
"protein_id": "ENSP00000585418.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 878,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915359.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760Trp",
"transcript": "ENST00000441867.6",
"protein_id": "ENSP00000405512.2",
"transcript_support_level": 5,
"aa_start": 760,
"aa_end": null,
"aa_length": 846,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441867.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2263C>T",
"hgvs_p": "p.Arg755Trp",
"transcript": "ENST00000896197.1",
"protein_id": "ENSP00000566256.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 841,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896197.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2257C>T",
"hgvs_p": "p.Arg753Trp",
"transcript": "ENST00000915358.1",
"protein_id": "ENSP00000585417.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 839,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915358.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2257C>T",
"hgvs_p": "p.Arg753Trp",
"transcript": "ENST00000971698.1",
"protein_id": "ENSP00000641757.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 839,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971698.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "ENST00000896196.1",
"protein_id": "ENSP00000566255.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 821,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896196.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "ENST00000896199.1",
"protein_id": "ENSP00000566258.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 820,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896199.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Arg732Trp",
"transcript": "ENST00000971699.1",
"protein_id": "ENSP00000641758.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 818,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971699.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Arg724Trp",
"transcript": "ENST00000915355.1",
"protein_id": "ENSP00000585414.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 810,
"cds_start": 2170,
"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": "ENST00000915355.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Arg724Trp",
"transcript": "ENST00000915357.1",
"protein_id": "ENSP00000585416.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 809,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915357.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Arg723Trp",
"transcript": "ENST00000971696.1",
"protein_id": "ENSP00000641755.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 809,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971696.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Trp",
"transcript": "ENST00000896198.1",
"protein_id": "ENSP00000566257.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 808,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896198.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Trp",
"transcript": "NM_001090.3",
"protein_id": "NP_001081.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 807,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001090.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Trp",
"transcript": "ENST00000915356.1",
"protein_id": "ENSP00000585415.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 807,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915356.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683Trp",
"transcript": "ENST00000971697.1",
"protein_id": "ENSP00000641756.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 769,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971697.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Trp",
"transcript": "ENST00000468958.2",
"protein_id": "ENSP00000440893.2",
"transcript_support_level": 3,
"aa_start": 662,
"aa_end": null,
"aa_length": 748,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468958.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"hgvs_c": "n.588C>T",
"hgvs_p": null,
"transcript": "ENST00000479542.1",
"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": "ENST00000479542.1"
}
],
"gene_symbol": "ABCF1",
"gene_hgnc_id": 70,
"dbsnp": "rs754981516",
"frequency_reference_population": 0.000026038373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.000026698,
"gnomad_genomes_af": 0.0000197086,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8412896394729614,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.432,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,BP6",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001025091.2",
"gene_symbol": "ABCF1",
"hgnc_id": 70,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Trp"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}