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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: 11-70490293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70490293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70490293,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000601538.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1849,
"cds_start": 2534,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 845,
"aa_end": null,
"aa_length": 1849,
"cds_start": 2534,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249Gln",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 1253,
"cds_start": 746,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 9208,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "n.813G>A",
"hgvs_p": null,
"transcript": "ENST00000449116.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2675G>A",
"hgvs_p": "p.Arg892Gln",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1889,
"cds_start": 2675,
"cds_end": null,
"cds_length": 5670,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 10779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 10906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 10903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2902,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 10826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2700,
"cdna_end": null,
"cdna_length": 10710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
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"cds_length": 5499,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441034.1",
"protein_id": "NP_001427963.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 10679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811Gln",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1808,
"cds_start": 2432,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 10707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "NM_001441039.1",
"protein_id": "NP_001427968.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2504,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 10860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"transcript": "NM_001379226.1",
"protein_id": "NP_001366155.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1470,
"cds_start": 1397,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 9819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"transcript": "ENST00000656230.1",
"protein_id": "ENSP00000499561.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1470,
"cds_start": 1397,
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"cdna_start": 1788,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456Gln",
"transcript": "NM_001441040.1",
"protein_id": "NP_001427969.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 1460,
"cds_start": 1367,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 1758,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "ENST00000659264.1",
"protein_id": "ENSP00000499270.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1279,
"cds_start": 824,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "NM_133266.5",
"protein_id": "NP_573573.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1261,
"cds_start": 770,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}