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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: 2-151490016-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151490016&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151490016,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25359A>C",
"hgvs_p": "p.Gln8453His",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25359,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25551,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25359A>C",
"hgvs_p": "p.Gln8453His",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25359,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25551,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25359A>C",
"hgvs_p": "p.Gln8453His",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25359,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25551,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25359A>C",
"hgvs_p": "p.Gln8453His",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25359,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25551,
"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.480+3260T>G",
"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": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25464A>C",
"hgvs_p": "p.Gln8488His",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8488,
"aa_end": null,
"aa_length": 8560,
"cds_start": 25464,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 25656,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 149,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19791A>C",
"hgvs_p": "p.Gln6597His",
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": 6597,
"aa_end": null,
"aa_length": 6669,
"cds_start": 19791,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 19983,
"cdna_end": null,
"cdna_length": 20623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 149,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19791A>C",
"hgvs_p": "p.Gln6597His",
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": 6597,
"aa_end": null,
"aa_length": 6669,
"cds_start": 19791,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 19994,
"cdna_end": null,
"cdna_length": 20637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.8805A>C",
"hgvs_p": "p.Gln2935His",
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": 2935,
"aa_end": null,
"aa_length": 3007,
"cds_start": 8805,
"cds_end": null,
"cds_length": 9024,
"cdna_start": 8805,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.7062A>C",
"hgvs_p": "p.Gln2354His",
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": 2354,
"aa_end": null,
"aa_length": 2426,
"cds_start": 7062,
"cds_end": null,
"cds_length": 7281,
"cdna_start": 7064,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.3666A>C",
"hgvs_p": "p.Gln1222His",
"transcript": "ENST00000434685.6",
"protein_id": "ENSP00000389074.2",
"transcript_support_level": 5,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3666,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1956A>C",
"hgvs_p": "p.Gln652His",
"transcript": "ENST00000688578.1",
"protein_id": "ENSP00000509628.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 724,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1758A>C",
"hgvs_p": "p.Gln586His",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 586,
"aa_end": null,
"aa_length": 658,
"cds_start": 1758,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25266A>C",
"hgvs_p": "p.Gln8422His",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8422,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25266,
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"cds_length": 25485,
"cdna_start": 25458,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25266A>C",
"hgvs_p": "p.Gln8422His",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8422,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25266,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 25458,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25266A>C",
"hgvs_p": "p.Gln8422His",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8422,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25266,
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"cdna_start": 25458,
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"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25266A>C",
"hgvs_p": "p.Gln8422His",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 8422,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25266,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 25458,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25266A>C",
"hgvs_p": "p.Gln8422His",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8422,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25266,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 25458,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25248A>C",
"hgvs_p": "p.Gln8416His",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8416,
"aa_end": null,
"aa_length": 8488,
"cds_start": 25248,
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"cdna_start": 25440,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 179,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25173A>C",
"hgvs_p": "p.Gln8391His",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 8391,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25173,
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"cdna_start": 25365,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 179,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25173A>C",
"hgvs_p": "p.Gln8391His",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8391,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25173,
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"cds_length": 25392,
"cdna_start": 25365,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 179,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25173A>C",
"hgvs_p": "p.Gln8391His",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 8391,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25173,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 25365,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 179,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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{
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "Nemaline myopathy 2|Inborn genetic diseases|NEB-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}