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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: 14-24148029-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24148029&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24148029,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000324103.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"transcript": "ENST00000559275.5",
"protein_id": "ENSP00000453574.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"transcript": "NM_017999.5",
"protein_id": "NP_060469.4",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 1072,
"cds_start": 246,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": "ENST00000324103.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"transcript": "ENST00000324103.11",
"protein_id": "ENSP00000315112.6",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 1072,
"cds_start": 246,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": "NM_017999.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259529",
"gene_hgnc_id": null,
"hgvs_c": "n.246C>T",
"hgvs_p": null,
"transcript": "ENST00000558468.2",
"protein_id": "ENSP00000457512.2",
"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": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"transcript": "ENST00000559275.5",
"protein_id": "ENSP00000453574.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"transcript": "NM_001310332.2",
"protein_id": "NP_001297261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"transcript": "ENST00000559533.6",
"protein_id": "ENSP00000454048.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"transcript": "ENST00000560071.5",
"protein_id": "ENSP00000453948.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"transcript": "ENST00000559308.5",
"protein_id": "ENSP00000453471.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": -4,
"cds_end": null,
"cds_length": 158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"transcript": "ENST00000559260.5",
"protein_id": "ENSP00000453645.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 96,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"transcript": "ENST00000699885.1",
"protein_id": "ENSP00000514674.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 1055,
"cds_start": 246,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"transcript": "ENST00000558907.6",
"protein_id": "ENSP00000453601.2",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 493,
"cds_start": 246,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"transcript": "ENST00000557991.5",
"protein_id": "ENSP00000453423.1",
"transcript_support_level": 4,
"aa_start": 82,
"aa_end": null,
"aa_length": 169,
"cds_start": 246,
"cds_end": null,
"cds_length": 510,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 578,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.150C>T",
"hgvs_p": null,
"transcript": "ENST00000557878.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 574,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000558452.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 3623,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.245C>T",
"hgvs_p": null,
"transcript": "ENST00000558634.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 537,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.87C>T",
"hgvs_p": null,
"transcript": "ENST00000559438.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 557,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.445C>T",
"hgvs_p": null,
"transcript": "ENST00000559882.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 554,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.229C>T",
"hgvs_p": null,
"transcript": "ENST00000560342.5",
"protein_id": null,
"transcript_support_level": 2,
"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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"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000699882.1",
"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": 3948,
"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": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000699883.1",
"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": 3879,
"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": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000699884.1",
"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": 3744,
"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": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.246C>T",
"hgvs_p": null,
"transcript": "ENST00000699886.1",
"protein_id": "ENSP00000514675.1",
"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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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.73,
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"phylop100way_score": -2.003,
"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000324103.11",
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"effects": [
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],
"inheritance_mode": "AR",
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{
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"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000558468.2",
"gene_symbol": "ENSG00000259529",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}