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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: 1-154429209-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154429209&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154429209,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000368485.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_000565.4",
"protein_id": "NP_000556.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 468,
"cds_start": 99,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": "ENST00000368485.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000368485.8",
"protein_id": "ENSP00000357470.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 468,
"cds_start": 99,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": "NM_000565.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000344086.8",
"protein_id": "ENSP00000340589.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 365,
"cds_start": 99,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000622330.5",
"protein_id": "ENSP00000477739.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 352,
"cds_start": 99,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001382769.1",
"protein_id": "NP_001369698.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 501,
"cds_start": 99,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001382770.1",
"protein_id": "NP_001369699.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 499,
"cds_start": 99,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001382771.1",
"protein_id": "NP_001369700.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 484,
"cds_start": 99,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001382772.1",
"protein_id": "NP_001369701.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 466,
"cds_start": 99,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001382773.1",
"protein_id": "NP_001369702.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 381,
"cds_start": 99,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_181359.3",
"protein_id": "NP_852004.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 365,
"cds_start": 99,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001206866.2",
"protein_id": "NP_001193795.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 352,
"cds_start": 99,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001382774.1",
"protein_id": "NP_001369703.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 348,
"cds_start": 99,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000512471.1",
"protein_id": "ENSP00000423184.1",
"transcript_support_level": 4,
"aa_start": 33,
"aa_end": null,
"aa_length": 169,
"cds_start": 99,
"cds_end": null,
"cds_length": 512,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "XM_017001199.2",
"protein_id": "XP_016856688.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 517,
"cds_start": 99,
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"cdna_start": 386,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Gly12Gly",
"transcript": "XM_047419648.1",
"protein_id": "XP_047275604.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 496,
"cds_start": 36,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Gly12Gly",
"transcript": "XM_047419649.1",
"protein_id": "XP_047275605.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 480,
"cds_start": 36,
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"cdna_start": 338,
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"cdna_length": 5815,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Gly12Gly",
"transcript": "XM_047419650.1",
"protein_id": "XP_047275606.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 447,
"cds_start": 36,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 5713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "XM_047419654.1",
"protein_id": "XP_047275610.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 387,
"cds_start": 99,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "XM_047419655.1",
"protein_id": "XP_047275611.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 376,
"cds_start": 99,
"cds_end": null,
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"cdna_start": 386,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "XM_047419656.1",
"protein_id": "XP_047275612.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 371,
"cds_start": 99,
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"cdna_start": 386,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "XM_005245139.2",
"protein_id": "XP_005245196.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 360,
"cds_start": 99,
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"cdna_start": 386,
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"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly",
"transcript": "XM_047419657.1",
"protein_id": "XP_047275613.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 354,
"cds_start": 99,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.-136C>A",
"hgvs_p": null,
"transcript": "ENST00000476006.5",
"protein_id": "ENSP00000423668.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
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"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"dbsnp": "rs538533109",
"frequency_reference_population": 0.0000024821902,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000137047,
"gnomad_genomes_af": 0.0000131468,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.833,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368485.8",
"gene_symbol": "IL6R",
"hgnc_id": 6019,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.99C>A",
"hgvs_p": "p.Gly33Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}