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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: 8-69576161-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=69576161&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 69576161,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000402687.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001128205.2",
"protein_id": "NP_001121677.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": "ENST00000402687.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "ENST00000402687.9",
"protein_id": "ENSP00000385704.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": "NM_001128205.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "ENST00000419716.7",
"protein_id": "ENSP00000390315.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "ENST00000458141.6",
"protein_id": "ENSP00000403040.2",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412828.1",
"protein_id": "NP_001399757.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1122,
"cds_start": 364,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412829.1",
"protein_id": "NP_001399758.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1122,
"cds_start": 364,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412830.1",
"protein_id": "NP_001399759.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1122,
"cds_start": 364,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 5628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412831.1",
"protein_id": "NP_001399760.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1122,
"cds_start": 364,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412832.1",
"protein_id": "NP_001399761.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1079,
"cds_start": 364,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412833.1",
"protein_id": "NP_001399762.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 903,
"cds_start": 364,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412834.1",
"protein_id": "NP_001399763.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 903,
"cds_start": 364,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001128204.2",
"protein_id": "NP_001121676.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001128206.2",
"protein_id": "NP_001121678.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412835.1",
"protein_id": "NP_001399764.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 5616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_015170.3",
"protein_id": "NP_055985.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "ENST00000260128.8",
"protein_id": "ENSP00000260128.4",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 871,
"cds_start": 364,
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"cdna_start": 1081,
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"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412836.1",
"protein_id": "NP_001399765.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 852,
"cds_start": 364,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412837.1",
"protein_id": "NP_001399766.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 852,
"cds_start": 364,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412838.1",
"protein_id": "NP_001399767.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 828,
"cds_start": 364,
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"cdna_start": 762,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412839.1",
"protein_id": "NP_001399768.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 828,
"cds_start": 364,
"cds_end": null,
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"cdna_start": 924,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Glu122Lys",
"transcript": "NM_001412840.1",
"protein_id": "NP_001399769.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 828,
"cds_start": 364,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "NM_001412841.1",
"protein_id": "NP_001399770.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 809,
"cds_start": 178,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULF1",
"gene_hgnc_id": 20391,
"hgvs_c": "c.178G>A",
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}