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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: 11-70472871-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70472871&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70472871,
"ref": "A",
"alt": "G",
"effect": "stop_lost",
"transcript": "NM_012309.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5548T>C",
"hgvs_p": "p.Ter1850Glnext*?",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 1850,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5548,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5548T>C",
"hgvs_p": "p.Ter1850Glnext*?",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 1850,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5548,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3760T>C",
"hgvs_p": "p.Ter1254Glnext*?",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3760,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5668T>C",
"hgvs_p": "p.Ter1890Glnext*?",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 1890,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5668,
"cds_end": null,
"cds_length": 5670,
"cdna_start": 5933,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5762,
"cdna_end": null,
"cdna_length": 10779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5889,
"cdna_end": null,
"cdna_length": 10906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 6022,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5886,
"cdna_end": null,
"cdna_length": 10903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5895,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5809,
"cdna_end": null,
"cdna_length": 10826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 6068,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5693,
"cdna_end": null,
"cdna_length": 10710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5497,
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"cds_length": 5499,
"cdna_start": 6019,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5497T>C",
"hgvs_p": "p.Ter1833Glnext*?",
"transcript": "NM_001441034.1",
"protein_id": "NP_001427963.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
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"cds_start": 5497,
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"cdna_start": 5662,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5470T>C",
"hgvs_p": "p.Ter1824Glnext*?",
"transcript": "NM_001441035.1",
"protein_id": "NP_001427964.1",
"transcript_support_level": null,
"aa_start": 1824,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5470,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 5735,
"cdna_end": null,
"cdna_length": 10752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5470T>C",
"hgvs_p": "p.Ter1824Glnext*?",
"transcript": "NM_001441036.1",
"protein_id": "NP_001427965.1",
"transcript_support_level": null,
"aa_start": 1824,
"aa_end": null,
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"cds_start": 5470,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5470T>C",
"hgvs_p": "p.Ter1824Glnext*?",
"transcript": "NM_001441037.1",
"protein_id": "NP_001427966.1",
"transcript_support_level": null,
"aa_start": 1824,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5470,
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"cds_length": 5472,
"cdna_start": 5635,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5425T>C",
"hgvs_p": "p.Ter1809Glnext*?",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5425,
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"cds_length": 5427,
"cdna_start": 5690,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4411T>C",
"hgvs_p": "p.Ter1471Glnext*?",
"transcript": "NM_001379226.1",
"protein_id": "NP_001366155.1",
"transcript_support_level": null,
"aa_start": 1471,
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"feature": null
},
{
"aa_ref": "*",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4411T>C",
"hgvs_p": "p.Ter1471Glnext*?",
"transcript": "ENST00000656230.1",
"protein_id": "ENSP00000499561.1",
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"aa_start": 1471,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4381T>C",
"hgvs_p": "p.Ter1461Glnext*?",
"transcript": "NM_001441040.1",
"protein_id": "NP_001427969.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4381,
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"cds_length": 4383,
"cdna_start": 4772,
"cdna_end": null,
"cdna_length": 9789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4333T>C",
"hgvs_p": "p.Ter1445Glnext*?",
"transcript": "NM_001441041.1",
"protein_id": "NP_001427970.1",
"transcript_support_level": null,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1444,
"cds_start": 4333,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 4724,
"cdna_end": null,
"cdna_length": 9741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}