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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: 2-151498288-A-ACTCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151498288&ref=A&alt=ACTCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151498288,
"ref": "A",
"alt": "ACTCT",
"effect": "frameshift_variant",
"transcript": "NM_001271208.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": "protein_coding",
"feature": "NM_001164507.2"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164508.2"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397345.8"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": "protein_coding",
"feature": "ENST00000427231.7"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24280_24283dupAGAG",
"hgvs_p": "p.Val8095fs",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8095,
"aa_end": null,
"aa_length": 8560,
"cds_start": 24283,
"cds_end": null,
"cds_length": 25683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271208.2"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.574_577dupAGAG",
"hgvs_p": "p.Val193fs",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 658,
"cds_start": 577,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397337.6"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.610_613dupAGAG",
"hgvs_p": "p.Val205fs",
"transcript": "ENST00000421461.6",
"protein_id": "ENSP00000408570.2",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 399,
"cds_start": 613,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421461.6"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24082_24085dupAGAG",
"hgvs_p": "p.Val8029fs",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8029,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24085,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246590.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24082_24085dupAGAG",
"hgvs_p": "p.Val8029fs",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8029,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24085,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246591.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246592.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246593.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24082_24085dupAGAG",
"hgvs_p": "p.Val8029fs",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8029,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24085,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246594.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24064_24067dupAGAG",
"hgvs_p": "p.Val8023fs",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8023,
"aa_end": null,
"aa_length": 8488,
"cds_start": 24067,
"cds_end": null,
"cds_length": 25467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004177.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23989_23992dupAGAG",
"hgvs_p": "p.Val7998fs",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 7998,
"aa_end": null,
"aa_length": 8463,
"cds_start": 23992,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246596.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24178,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246597.3"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24175_24178dupAGAG",
"hgvs_p": "p.Val8060fs",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 8060,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24178,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246598.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23989_23992dupAGAG",
"hgvs_p": "p.Val7998fs",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 7998,
"aa_end": null,
"aa_length": 8463,
"cds_start": 23992,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004178.2"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23971_23974dupAGAG",
"hgvs_p": "p.Val7992fs",
"transcript": "XM_047444477.1",
"protein_id": "XP_047300433.1",
"transcript_support_level": null,
"aa_start": 7992,
"aa_end": null,
"aa_length": 8457,
"cds_start": 23974,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047444477.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 166,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23446_23449dupAGAG",
"hgvs_p": "p.Val7817fs",
"transcript": "XM_005246612.3",
"protein_id": "XP_005246669.1",
"transcript_support_level": null,
"aa_start": 7817,
"aa_end": null,
"aa_length": 8282,
"cds_start": 23449,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246612.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 167,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23446_23449dupAGAG",
"hgvs_p": "p.Val7817fs",
"transcript": "XM_005246613.3",
"protein_id": "XP_005246670.1",
"transcript_support_level": null,
"aa_start": 7817,
"aa_end": null,
"aa_length": 8282,
"cds_start": 23449,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246613.3"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 168,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23989_23992dupAGAG",
"hgvs_p": "p.Val7998fs",
"transcript": "XM_005246616.2",
"protein_id": "XP_005246673.1",
"transcript_support_level": null,
"aa_start": 7998,
"aa_end": null,
"aa_length": 8018,
"cds_start": 23992,
"cds_end": null,
"cds_length": 24057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246616.2"
},
{
"aa_ref": "V",
"aa_alt": "ES?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 159,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21988_21991dupAGAG",
"hgvs_p": "p.Val7331fs",
"transcript": "XM_011511226.3",
"protein_id": "XP_011509528.1",
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{
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{
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"verdict": "Uncertain_significance",
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],
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"phenotype_combined": "Nemaline myopathy 2",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}