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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: 2-241711416-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241711416&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241711416,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330161.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "NM_032329.6",
"protein_id": "NP_115705.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 240,
"cds_start": 316,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313552.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032329.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000313552.11",
"protein_id": "ENSP00000322142.7",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 240,
"cds_start": 316,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032329.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313552.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000406941.5",
"protein_id": "ENSP00000385937.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 226,
"cds_start": 316,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406941.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000948226.1",
"protein_id": "ENSP00000618285.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 435,
"cds_start": 316,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948226.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000895898.1",
"protein_id": "ENSP00000565957.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 350,
"cds_start": 316,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895898.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000895897.1",
"protein_id": "ENSP00000565956.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 325,
"cds_start": 316,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895897.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"transcript": "NM_001330161.2",
"protein_id": "NP_001317090.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 254,
"cds_start": 322,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330161.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"transcript": "ENST00000636051.1",
"protein_id": "ENSP00000490767.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 254,
"cds_start": 322,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636051.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000895899.1",
"protein_id": "ENSP00000565958.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 239,
"cds_start": 316,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895899.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Arg95Cys",
"transcript": "ENST00000919535.1",
"protein_id": "ENSP00000589594.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 229,
"cds_start": 283,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919535.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "NM_001330162.2",
"protein_id": "NP_001317091.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 226,
"cds_start": 316,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330162.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000919537.1",
"protein_id": "ENSP00000589596.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 174,
"cds_start": 316,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919537.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "XM_047446010.1",
"protein_id": "XP_047301966.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 312,
"cds_start": 496,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446010.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "XM_017005097.2",
"protein_id": "XP_016860586.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 300,
"cds_start": 496,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005097.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "XM_017005098.2",
"protein_id": "XP_016860587.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 286,
"cds_start": 496,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005098.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "XM_047446011.1",
"protein_id": "XP_047301967.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 252,
"cds_start": 316,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446011.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"transcript": "XM_047446012.1",
"protein_id": "XP_047301968.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 242,
"cds_start": 322,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446012.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "XM_047446013.1",
"protein_id": "XP_047301969.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 226,
"cds_start": 316,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446013.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"transcript": "XM_047446014.1",
"protein_id": "XP_047301970.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 225,
"cds_start": 235,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446014.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "XM_017005102.3",
"protein_id": "XP_016860591.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 206,
"cds_start": 316,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005102.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "c.110-562C>T",
"hgvs_p": null,
"transcript": "ENST00000919536.1",
"protein_id": "ENSP00000589595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING5",
"gene_hgnc_id": 19421,
"hgvs_c": "n.316C>T",
"hgvs_p": null,
"transcript": "ENST00000445620.5",
"protein_id": "ENSP00000416878.1",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445620.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}