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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: 17-42322409-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42322409&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42322409,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000264657.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_139276.3",
"protein_id": "NP_644805.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "ENST00000264657.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000264657.10",
"protein_id": "ENSP00000264657.4",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "NM_139276.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000588969.5",
"protein_id": "ENSP00000467985.1",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000404395.3",
"protein_id": "ENSP00000384943.3",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 769,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2070G>C",
"hgvs_p": "p.Lys690Asn",
"transcript": "ENST00000677421.1",
"protein_id": "ENSP00000503599.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 802,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1989G>C",
"hgvs_p": "p.Lys663Asn",
"transcript": "ENST00000678792.1",
"protein_id": "ENSP00000504435.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 775,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1989G>C",
"hgvs_p": "p.Lys663Asn",
"transcript": "ENST00000678913.1",
"protein_id": "ENSP00000504609.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 775,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_001369512.1",
"protein_id": "NP_001356441.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_001369513.1",
"protein_id": "NP_001356442.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000678044.1",
"protein_id": "ENSP00000503102.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000678906.1",
"protein_id": "ENSP00000504184.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000678960.1",
"protein_id": "ENSP00000503181.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000715205.1",
"protein_id": "ENSP00000520412.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 770,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_001369514.1",
"protein_id": "NP_001356443.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
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"cds_start": 1974,
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"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_001369516.1",
"protein_id": "NP_001356445.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 769,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_003150.4",
"protein_id": "NP_003141.2",
"transcript_support_level": null,
"aa_start": 658,
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"cdna_start": 2139,
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"cdna_length": 4896,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000677723.1",
"protein_id": "ENSP00000503574.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 769,
"cds_start": 1974,
"cds_end": null,
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"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000679014.1",
"protein_id": "ENSP00000503237.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 769,
"cds_start": 1974,
"cds_end": null,
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"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "NM_001384993.1",
"protein_id": "NP_001371922.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
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"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn",
"transcript": "ENST00000677152.1",
"protein_id": "ENSP00000502874.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
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"cds_start": 1974,
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"cdna_start": 2174,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1953G>C",
"hgvs_p": "p.Lys651Asn",
"transcript": "NM_001384987.1",
"protein_id": "NP_001371916.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 763,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1953G>C",
"hgvs_p": "p.Lys651Asn",
"transcript": "ENST00000678043.1",
"protein_id": "ENSP00000503872.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 763,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "STAT3",
"gene_hgnc_id": 11364,
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"verdict": "Pathogenic",
"transcript": "ENST00000264657.10",
"gene_symbol": "STAT3",
"hgnc_id": 11364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1974G>C",
"hgvs_p": "p.Lys658Asn"
}
],
"clinvar_disease": "STAT3-related early-onset multisystem autoimmune disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "STAT3-related early-onset multisystem autoimmune disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}