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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: 6-43443094-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43443094&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43443094,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372530.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "NM_001198934.2",
"protein_id": "NP_001185863.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": "ENST00000372530.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "ENST00000372530.9",
"protein_id": "ENSP00000361608.4",
"transcript_support_level": 2,
"aa_start": 784,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": "NM_001198934.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756His",
"transcript": "ENST00000244533.7",
"protein_id": "ENSP00000244533.3",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 1464,
"cds_start": 2267,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756His",
"transcript": "NM_033450.3",
"protein_id": "NP_258261.2",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1464,
"cds_start": 2267,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001350518.2",
"protein_id": "NP_001337447.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 1048,
"cds_start": 1019,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "XM_047419494.1",
"protein_id": "XP_047275450.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1523,
"cds_start": 2444,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_011514974.4",
"protein_id": "XP_011513276.3",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_047419495.1",
"protein_id": "XP_047275451.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_047419496.1",
"protein_id": "XP_047275452.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_047419497.1",
"protein_id": "XP_047275453.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1428,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_047419498.1",
"protein_id": "XP_047275454.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1847G>A",
"hgvs_p": "p.Arg616His",
"transcript": "XM_047419499.1",
"protein_id": "XP_047275455.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1324,
"cds_start": 1847,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_047419500.1",
"protein_id": "XP_047275456.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2351,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His",
"transcript": "XM_047419501.1",
"protein_id": "XP_047275457.1",
"transcript_support_level": null,
"aa_start": 784,
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"cds_start": 2351,
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"cdna_start": 2467,
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"cdna_length": 3914,
"mane_select": null,
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"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "XM_047419502.1",
"protein_id": "XP_047275458.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 1048,
"cds_start": 1019,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133His",
"transcript": "XM_011514985.4",
"protein_id": "XP_011513287.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
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"cds_start": 398,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133His",
"transcript": "XM_011514986.4",
"protein_id": "XP_011513288.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 841,
"cds_start": 398,
"cds_end": null,
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"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.1306G>A",
"hgvs_p": null,
"transcript": "ENST00000463024.1",
"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,
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"cdna_length": 4542,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.1202G>A",
"hgvs_p": null,
"transcript": "NR_146762.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.2467G>A",
"hgvs_p": null,
"transcript": "XR_007059383.1",
"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": 4927,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.2467G>A",
"hgvs_p": null,
"transcript": "XR_007059384.1",
"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": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*1197G>A",
"hgvs_p": null,
"transcript": "ENST00000372515.9",
"protein_id": "ENSP00000361593.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"dbsnp": "rs41271275",
"frequency_reference_population": 0.00008066077,
"hom_count_reference_population": 1,
"allele_count_reference_population": 130,
"gnomad_exomes_af": 0.000086334,
"gnomad_genomes_af": 0.0000262743,
"gnomad_exomes_ac": 126,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22056445479393005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.771,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000372530.9",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}