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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: 17-68428833-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68428833&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68428833,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017983.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.His357Asp",
"transcript": "NM_017983.7",
"protein_id": "NP_060453.3",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 446,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": "ENST00000262139.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017983.7"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.His357Asp",
"transcript": "ENST00000262139.10",
"protein_id": "ENSP00000262139.4",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 446,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": "NM_017983.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262139.10"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.His357Asp",
"transcript": "ENST00000891619.1",
"protein_id": "ENSP00000561678.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 447,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891619.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.His302Asp",
"transcript": "ENST00000891622.1",
"protein_id": "ENSP00000561681.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 392,
"cds_start": 904,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891622.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.His302Asp",
"transcript": "ENST00000891620.1",
"protein_id": "ENSP00000561679.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 391,
"cds_start": 904,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891620.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.His275Asp",
"transcript": "NM_001320772.2",
"protein_id": "NP_001307701.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 364,
"cds_start": 823,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320772.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.His275Asp",
"transcript": "ENST00000546360.5",
"protein_id": "ENSP00000437345.1",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 364,
"cds_start": 823,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546360.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.His125Asp",
"transcript": "ENST00000591744.1",
"protein_id": "ENSP00000466270.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 205,
"cds_start": 373,
"cds_end": null,
"cds_length": 618,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591744.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.His229Asp",
"transcript": "XM_017024808.2",
"protein_id": "XP_016880297.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 318,
"cds_start": 685,
"cds_end": null,
"cds_length": 957,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024808.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "NM_001352899.2",
"protein_id": "NP_001339828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352899.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*457G>C",
"hgvs_p": null,
"transcript": "NM_001352902.2",
"protein_id": "NP_001339831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352902.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "NM_001352904.2",
"protein_id": "NP_001339833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352904.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "NM_001352906.2",
"protein_id": "NP_001339835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352906.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "XM_047435633.1",
"protein_id": "XP_047291589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
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"cds_length": 1659,
"cdna_start": null,
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"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "XM_017024365.2",
"protein_id": "XP_016879854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024365.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "XM_047435639.1",
"protein_id": "XP_047291595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435639.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "XM_047435640.1",
"protein_id": "XP_047291596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435640.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*43+8327G>C",
"hgvs_p": null,
"transcript": "NM_001352905.2",
"protein_id": "NP_001339834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352905.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1304-11868G>C",
"hgvs_p": null,
"transcript": "NM_001352910.2",
"protein_id": "NP_001339839.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352910.2"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1256-11868G>C",
"hgvs_p": null,
"transcript": "NM_001352909.2",
"protein_id": "NP_001339838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352909.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.965+1163C>G",
"hgvs_p": null,
"transcript": "ENST00000959788.1",
"protein_id": "ENSP00000629847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": null,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959788.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.-7+15038G>C",
"hgvs_p": null,
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278433.2"
},
{
"aa_ref": null,
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}