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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: 10-67521943-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=67521943&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 67521943,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000433211.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "NM_013266.4",
"protein_id": "NP_037398.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 895,
"cds_start": 478,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": "ENST00000433211.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000433211.7",
"protein_id": "ENSP00000389714.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 895,
"cds_start": 478,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": "NM_013266.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "NM_001127384.3",
"protein_id": "NP_001120856.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 895,
"cds_start": 478,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 10620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000682758.1",
"protein_id": "ENSP00000508047.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 895,
"cds_start": 478,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 10763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000684154.1",
"protein_id": "ENSP00000508371.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 895,
"cds_start": 478,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 10766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000682945.1",
"protein_id": "ENSP00000506843.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 828,
"cds_start": 478,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.514T>A",
"hgvs_p": "p.Ser172Thr",
"transcript": "NM_001291133.2",
"protein_id": "NP_001278062.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 388,
"cds_start": 514,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000330298.6",
"protein_id": "ENSP00000330570.5",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 192,
"cds_start": 478,
"cds_end": null,
"cds_length": 579,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.514T>A",
"hgvs_p": "p.Ser172Thr",
"transcript": "XM_017016152.2",
"protein_id": "XP_016871641.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 970,
"cds_start": 514,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 10962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr",
"transcript": "XM_017016151.2",
"protein_id": "XP_016871640.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 918,
"cds_start": 478,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 10689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.514T>A",
"hgvs_p": "p.Ser172Thr",
"transcript": "XM_047425124.1",
"protein_id": "XP_047281080.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 907,
"cds_start": 514,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 10738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.514T>A",
"hgvs_p": "p.Ser172Thr",
"transcript": "XM_017016158.3",
"protein_id": "XP_016871647.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 388,
"cds_start": 514,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2820,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*174T>A",
"hgvs_p": null,
"transcript": "ENST00000545309.3",
"protein_id": "ENSP00000441444.3",
"transcript_support_level": 5,
"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": 966,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*174T>A",
"hgvs_p": null,
"transcript": "ENST00000682166.1",
"protein_id": "ENSP00000507319.1",
"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": 2536,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.672T>A",
"hgvs_p": null,
"transcript": "ENST00000683272.1",
"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": 2056,
"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": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*174T>A",
"hgvs_p": null,
"transcript": "ENST00000683624.1",
"protein_id": "ENSP00000507406.1",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.672T>A",
"hgvs_p": null,
"transcript": "ENST00000683630.1",
"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": 2022,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*2T>A",
"hgvs_p": null,
"transcript": "ENST00000683963.1",
"protein_id": "ENSP00000507029.1",
"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": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*174T>A",
"hgvs_p": null,
"transcript": "ENST00000545309.3",
"protein_id": "ENSP00000441444.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*174T>A",
"hgvs_p": null,
"transcript": "ENST00000682166.1",
"protein_id": "ENSP00000507319.1",
"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": 2536,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*174T>A",
"hgvs_p": null,
"transcript": "ENST00000683624.1",
"protein_id": "ENSP00000507406.1",
"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": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*2T>A",
"hgvs_p": null,
"transcript": "ENST00000683963.1",
"protein_id": "ENSP00000507029.1",
"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": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"dbsnp": "rs61749223",
"frequency_reference_population": 0.024455205,
"hom_count_reference_population": 600,
"allele_count_reference_population": 39428,
"gnomad_exomes_af": 0.0249507,
"gnomad_genomes_af": 0.0197037,
"gnomad_exomes_ac": 36428,
"gnomad_genomes_ac": 3000,
"gnomad_exomes_homalt": 562,
"gnomad_genomes_homalt": 38,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006907731294631958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.0681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.087,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000433211.7",
"gene_symbol": "CTNNA3",
"hgnc_id": 2511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.478T>A",
"hgvs_p": "p.Ser160Thr"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 13,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 13|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}