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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: 6-101859329-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=101859329&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 101859329,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000369134.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "NM_021956.5",
"protein_id": "NP_068775.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": "ENST00000369134.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000369134.9",
"protein_id": "ENSP00000358130.6",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": "NM_021956.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000421544.6",
"protein_id": "ENSP00000397026.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000369138.5",
"protein_id": "ENSP00000358134.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 892,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000413795.5",
"protein_id": "ENSP00000405596.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 869,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000681975.1",
"protein_id": "ENSP00000508014.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000682090.1",
"protein_id": "ENSP00000508130.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000683215.1",
"protein_id": "ENSP00000507424.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "NM_001166247.1",
"protein_id": "NP_001159719.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 892,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "ENST00000684068.1",
"protein_id": "ENSP00000508175.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 892,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "NM_175768.3",
"protein_id": "NP_786944.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 869,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Tyr378His",
"transcript": "ENST00000683903.1",
"protein_id": "ENSP00000507071.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 832,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000455610.5",
"protein_id": "ENSP00000391988.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 179,
"cds_start": 499,
"cds_end": null,
"cds_length": 540,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "XM_047418681.1",
"protein_id": "XP_047274637.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
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"cds_start": 1360,
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"cdna_start": 2298,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "XM_047418682.1",
"protein_id": "XP_047274638.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 869,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1213T>C",
"hgvs_p": "p.Tyr405His",
"transcript": "XM_005266946.5",
"protein_id": "XP_005267003.1",
"transcript_support_level": null,
"aa_start": 405,
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"aa_length": 859,
"cds_start": 1213,
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"cdna_start": 1738,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "XM_017010781.3",
"protein_id": "XP_016866270.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 707,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Tyr454His",
"transcript": "XM_017010782.3",
"protein_id": "XP_016866271.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 601,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1783,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "n.*1351T>C",
"hgvs_p": null,
"transcript": "ENST00000369137.8",
"protein_id": "ENSP00000358133.5",
"transcript_support_level": 5,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "n.*404T>C",
"hgvs_p": null,
"transcript": "ENST00000436862.2",
"protein_id": "ENSP00000407140.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "n.1745T>C",
"hgvs_p": null,
"transcript": "ENST00000682052.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
"hgvs_c": "n.1360T>C",
"hgvs_p": null,
"transcript": "ENST00000682115.1",
"protein_id": "ENSP00000508069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK2",
"gene_hgnc_id": 4580,
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"bayesdelnoaf_score": -0.1,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}