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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: 2-214948607-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214948607&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 214948607,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000272895.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.7093G>A",
"hgvs_p": "p.Asp2365Asn",
"transcript": "NM_173076.3",
"protein_id": "NP_775099.2",
"transcript_support_level": null,
"aa_start": 2365,
"aa_end": null,
"aa_length": 2595,
"cds_start": 7093,
"cds_end": null,
"cds_length": 7788,
"cdna_start": 7511,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": "ENST00000272895.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.7093G>A",
"hgvs_p": "p.Asp2365Asn",
"transcript": "ENST00000272895.12",
"protein_id": "ENSP00000272895.7",
"transcript_support_level": 1,
"aa_start": 2365,
"aa_end": null,
"aa_length": 2595,
"cds_start": 7093,
"cds_end": null,
"cds_length": 7788,
"cdna_start": 7511,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": "NM_173076.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.6139G>A",
"hgvs_p": "p.Asp2047Asn",
"transcript": "ENST00000389661.4",
"protein_id": "ENSP00000374312.4",
"transcript_support_level": 1,
"aa_start": 2047,
"aa_end": null,
"aa_length": 2277,
"cds_start": 6139,
"cds_end": null,
"cds_length": 6834,
"cdna_start": 6298,
"cdna_end": null,
"cdna_length": 7005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.6139G>A",
"hgvs_p": "p.Asp2047Asn",
"transcript": "NM_015657.4",
"protein_id": "NP_056472.2",
"transcript_support_level": null,
"aa_start": 2047,
"aa_end": null,
"aa_length": 2277,
"cds_start": 6139,
"cds_end": null,
"cds_length": 6834,
"cdna_start": 6298,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.7102G>A",
"hgvs_p": "p.Asp2368Asn",
"transcript": "XM_011510951.3",
"protein_id": "XP_011509253.1",
"transcript_support_level": null,
"aa_start": 2368,
"aa_end": null,
"aa_length": 2598,
"cds_start": 7102,
"cds_end": null,
"cds_length": 7797,
"cdna_start": 7520,
"cdna_end": null,
"cdna_length": 9307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "n.7591G>A",
"hgvs_p": null,
"transcript": "NR_103740.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.473+660C>T",
"hgvs_p": null,
"transcript": "ENST00000607412.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.370-11786C>T",
"hgvs_p": null,
"transcript": "ENST00000655899.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.452-13203C>T",
"hgvs_p": null,
"transcript": "ENST00000664818.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.611-13203C>T",
"hgvs_p": null,
"transcript": "ENST00000670391.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.390-13203C>T",
"hgvs_p": null,
"transcript": "ENST00000797167.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.472-13203C>T",
"hgvs_p": null,
"transcript": "ENST00000797168.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.448-13203C>T",
"hgvs_p": null,
"transcript": "ENST00000797169.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 700,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.342-11210C>T",
"hgvs_p": null,
"transcript": "ENST00000797170.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.323-11210C>T",
"hgvs_p": null,
"transcript": "ENST00000797171.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.443+660C>T",
"hgvs_p": null,
"transcript": "ENST00000797173.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.636-54C>T",
"hgvs_p": null,
"transcript": "ENST00000797174.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1296,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.217-13203C>T",
"hgvs_p": null,
"transcript": "ENST00000797175.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.447-453C>T",
"hgvs_p": null,
"transcript": "ENST00000797176.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.443-470C>T",
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"transcript": "ENST00000797177.1",
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"cdna_length": 626,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNHG31",
"gene_hgnc_id": 54196,
"hgvs_c": "n.444+660C>T",
"hgvs_p": null,
"transcript": "NR_110292.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2240,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"dbsnp": "rs726070",
"frequency_reference_population": 0.027888667,
"hom_count_reference_population": 802,
"allele_count_reference_population": 45005,
"gnomad_exomes_af": 0.02842,
"gnomad_genomes_af": 0.0227864,
"gnomad_exomes_ac": 41537,
"gnomad_genomes_ac": 3468,
"gnomad_exomes_homalt": 733,
"gnomad_genomes_homalt": 69,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002385765314102173,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.337,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.529,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000272895.12",
"gene_symbol": "ABCA12",
"hgnc_id": 14637,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7093G>A",
"hgvs_p": "p.Asp2365Asn"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000607412.2",
"gene_symbol": "SNHG31",
"hgnc_id": 54196,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.473+660C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive congenital ichthyosis 4A,Autosomal recessive congenital ichthyosis 4B,Congenital ichthyosis of skin,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:6",
"phenotype_combined": "Autosomal recessive congenital ichthyosis 4B|Congenital ichthyosis of skin|not specified|not provided|Autosomal recessive congenital ichthyosis 4B;Autosomal recessive congenital ichthyosis 4A",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}