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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: 2-151494189-ACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151494189&ref=ACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151494189,
"ref": "ACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24549_24550delAG",
"hgvs_p": "p.Arg8183fs",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8183,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24549,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24742,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24549_24550delAG",
"hgvs_p": "p.Arg8183fs",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8183,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24549,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24742,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24549_24550delAG",
"hgvs_p": "p.Arg8183fs",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8183,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24549,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24742,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24549_24550delAG",
"hgvs_p": "p.Arg8183fs",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8183,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24549,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24742,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.481-1035_481-1034delCT",
"hgvs_p": null,
"transcript": "ENST00000457745.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 175,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24654_24655delAG",
"hgvs_p": "p.Arg8218fs",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8218,
"aa_end": null,
"aa_length": 8560,
"cds_start": 24654,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 24847,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18981_18982delAG",
"hgvs_p": "p.Arg6327fs",
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": 6327,
"aa_end": null,
"aa_length": 6669,
"cds_start": 18981,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 19174,
"cdna_end": null,
"cdna_length": 20623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18981_18982delAG",
"hgvs_p": "p.Arg6327fs",
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": 6327,
"aa_end": null,
"aa_length": 6669,
"cds_start": 18981,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 19185,
"cdna_end": null,
"cdna_length": 20637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.8181_8182delAG",
"hgvs_p": "p.Arg2727fs",
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": 2727,
"aa_end": null,
"aa_length": 3007,
"cds_start": 8181,
"cds_end": null,
"cds_length": 9024,
"cdna_start": 8182,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.6438_6439delAG",
"hgvs_p": "p.Arg2146fs",
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": 2146,
"aa_end": null,
"aa_length": 2426,
"cds_start": 6438,
"cds_end": null,
"cds_length": 7281,
"cdna_start": 6441,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1146_1147delAG",
"hgvs_p": "p.Arg382fs",
"transcript": "ENST00000688578.1",
"protein_id": "ENSP00000509628.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 724,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.948_949delAG",
"hgvs_p": "p.Arg316fs",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 658,
"cds_start": 948,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.984_985delAG",
"hgvs_p": "p.Arg328fs",
"transcript": "ENST00000421461.6",
"protein_id": "ENSP00000408570.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 399,
"cds_start": 984,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24456_24457delAG",
"hgvs_p": "p.Arg8152fs",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8152,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24456,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24649,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24456_24457delAG",
"hgvs_p": "p.Arg8152fs",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8152,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24456,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24649,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24456_24457delAG",
"hgvs_p": "p.Arg8152fs",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8152,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24456,
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"cdna_start": 24649,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24549_24550delAG",
"hgvs_p": "p.Arg8183fs",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 8183,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24549,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24742,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24456_24457delAG",
"hgvs_p": "p.Arg8152fs",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8152,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24456,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24649,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 173,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24438_24439delAG",
"hgvs_p": "p.Arg8146fs",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8146,
"aa_end": null,
"aa_length": 8488,
"cds_start": 24438,
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"cdna_start": 24631,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 172,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24363_24364delAG",
"hgvs_p": "p.Arg8121fs",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 8121,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24363,
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"cdna_start": 24556,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 172,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24363_24364delAG",
"hgvs_p": "p.Arg8121fs",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8121,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24363,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24556,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 174,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24549_24550delAG",
"hgvs_p": "p.Arg8183fs",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 8183,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24549,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24742,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 172,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
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{
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Nemaline myopathy 2|Nemaline myopathy|Arthrogryposis multiplex congenita 6|Nemaline myopathy 2;Arthrogryposis multiplex congenita 6",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
],
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}