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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: 2-219210018-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219210018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219210018,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005689.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met",
"transcript": "NM_005689.4",
"protein_id": "NP_005680.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 842,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "ENST00000265316.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005689.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met",
"transcript": "ENST00000265316.9",
"protein_id": "ENSP00000265316.3",
"transcript_support_level": 1,
"aa_start": 817,
"aa_end": null,
"aa_length": 842,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "NM_005689.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265316.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284820",
"gene_hgnc_id": null,
"hgvs_c": "n.*4233G>A",
"hgvs_p": null,
"transcript": "ENST00000446716.5",
"protein_id": "ENSP00000398528.1",
"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": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284820",
"gene_hgnc_id": null,
"hgvs_c": "n.*4233G>A",
"hgvs_p": null,
"transcript": "ENST00000446716.5",
"protein_id": "ENSP00000398528.1",
"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": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446716.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Val825Met",
"transcript": "ENST00000958200.1",
"protein_id": "ENSP00000628259.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 850,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958200.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2440G>A",
"hgvs_p": "p.Val814Met",
"transcript": "ENST00000856963.1",
"protein_id": "ENSP00000527022.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 839,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856963.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2410G>A",
"hgvs_p": "p.Val804Met",
"transcript": "ENST00000856961.1",
"protein_id": "ENSP00000527020.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 829,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856961.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2407G>A",
"hgvs_p": "p.Val803Met",
"transcript": "ENST00000958201.1",
"protein_id": "ENSP00000628260.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 828,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958201.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Val800Met",
"transcript": "ENST00000856962.1",
"protein_id": "ENSP00000527021.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 825,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856962.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Val796Met",
"transcript": "ENST00000958199.1",
"protein_id": "ENSP00000628258.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958199.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Val775Met",
"transcript": "ENST00000856959.1",
"protein_id": "ENSP00000527018.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 800,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856959.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2311G>A",
"hgvs_p": "p.Val771Met",
"transcript": "NM_001349828.2",
"protein_id": "NP_001336757.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 796,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349828.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2311G>A",
"hgvs_p": "p.Val771Met",
"transcript": "ENST00000295750.5",
"protein_id": "ENSP00000295750.5",
"transcript_support_level": 5,
"aa_start": 771,
"aa_end": null,
"aa_length": 796,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295750.5"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2305G>A",
"hgvs_p": "p.Val769Met",
"transcript": "ENST00000856960.1",
"protein_id": "ENSP00000527019.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 794,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856960.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Met",
"transcript": "ENST00000958202.1",
"protein_id": "ENSP00000628261.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 740,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958202.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Val425Met",
"transcript": "ENST00000958203.1",
"protein_id": "ENSP00000628262.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 450,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.*315G>A",
"hgvs_p": null,
"transcript": "ENST00000443805.1",
"protein_id": "ENSP00000414646.1",
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.716G>A",
"hgvs_p": null,
"transcript": "ENST00000485773.5",
"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": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485773.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.522G>A",
"hgvs_p": null,
"transcript": "ENST00000487380.5",
"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": 768,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487380.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.2762G>A",
"hgvs_p": null,
"transcript": "ENST00000497882.5",
"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": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497882.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.*315G>A",
"hgvs_p": null,
"transcript": "ENST00000443805.1",
"protein_id": "ENSP00000414646.1",
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443805.1"
}
],
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"dbsnp": "rs553140087",
"frequency_reference_population": 0.000006565902,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065659,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0724356472492218,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.986,
"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_005689.4",
"gene_symbol": "ABCB6",
"hgnc_id": 47,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000446716.5",
"gene_symbol": "ENSG00000284820",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*4233G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}