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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: 7-22493779-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=22493779&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 22493779,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001164460.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "NM_001382447.1",
"protein_id": "NP_001369376.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": "ENST00000678116.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382447.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000678116.1",
"protein_id": "ENSP00000503251.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": "NM_001382447.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678116.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000404369.8",
"protein_id": "ENSP00000384370.4",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 342,
"cds_start": 142,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404369.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Gln29Glu",
"transcript": "ENST00000406890.6",
"protein_id": "ENSP00000385239.2",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 245,
"cds_start": 85,
"cds_end": null,
"cds_length": 738,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406890.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "n.261C>G",
"hgvs_p": null,
"transcript": "ENST00000483679.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483679.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "NM_001164460.2",
"protein_id": "NP_001157932.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 342,
"cds_start": 142,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164460.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000906690.1",
"protein_id": "ENSP00000576749.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906690.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915078.1",
"protein_id": "ENSP00000585137.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915078.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915079.1",
"protein_id": "ENSP00000585138.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915079.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915080.1",
"protein_id": "ENSP00000585139.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915080.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915082.1",
"protein_id": "ENSP00000585141.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915082.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915083.1",
"protein_id": "ENSP00000585142.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915083.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915085.1",
"protein_id": "ENSP00000585144.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915085.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000915087.1",
"protein_id": "ENSP00000585146.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 264,
"cds_start": 142,
"cds_end": null,
"cds_length": 795,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915087.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000424363.5",
"protein_id": "ENSP00000416608.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 253,
"cds_start": 142,
"cds_end": null,
"cds_length": 762,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424363.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "ENST00000439708.1",
"protein_id": "ENSP00000408954.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 215,
"cds_start": 142,
"cds_end": null,
"cds_length": 650,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439708.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "XM_047420103.1",
"protein_id": "XP_047276059.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 348,
"cds_start": 142,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420103.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "XM_047420104.1",
"protein_id": "XP_047276060.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 348,
"cds_start": 142,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420104.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "XM_047420106.1",
"protein_id": "XP_047276062.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 286,
"cds_start": 142,
"cds_end": null,
"cds_length": 861,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420106.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "XM_047420107.1",
"protein_id": "XP_047276063.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 285,
"cds_start": 142,
"cds_end": null,
"cds_length": 858,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420107.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "XM_047420108.1",
"protein_id": "XP_047276064.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 268,
"cds_start": 142,
"cds_end": null,
"cds_length": 807,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420108.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "STEAP1B",
"gene_hgnc_id": 41907,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu",
"transcript": "XM_047420110.1",
"protein_id": "XP_047276066.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 259,
"cds_start": 142,
"cds_end": null,
"cds_length": 780,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
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{
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{
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},
{
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],
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"gene_symbol": "STEAP1B",
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"transcript": "ENST00000915086.1",
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"biotype": "protein_coding",
"feature": "ENST00000915086.1"
}
],
"gene_symbol": "STEAP1B",
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"dbsnp": "rs772761908",
"frequency_reference_population": 0.00004400301,
"hom_count_reference_population": 0,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000342086,
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"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09066331386566162,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.963,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001164460.2",
"gene_symbol": "STEAP1B",
"hgnc_id": 41907,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Gln48Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}