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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: 2-151505476-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151505476&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151505476,
"ref": "A",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8525,
"cds_start": -4,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "n.1423T>C",
"hgvs_p": null,
"transcript": "ENST00000688161.1",
"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": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": 166,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23847+2T>C",
"hgvs_p": null,
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8560,
"cds_start": -4,
"cds_end": null,
"cds_length": 25683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": 138,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18639+2T>C",
"hgvs_p": null,
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6669,
"cds_start": -4,
"cds_end": null,
"cds_length": 20010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": 138,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18639+2T>C",
"hgvs_p": null,
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 6669,
"cds_start": -4,
"cds_end": null,
"cds_length": 20010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.7932+2T>C",
"hgvs_p": null,
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3007,
"cds_start": -4,
"cds_end": null,
"cds_length": 9024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.6375+2T>C",
"hgvs_p": null,
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2426,
"cds_start": -4,
"cds_end": null,
"cds_length": 7281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.3072+2T>C",
"hgvs_p": null,
"transcript": "ENST00000434685.6",
"protein_id": "ENSP00000389074.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": -4,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.525+2T>C",
"hgvs_p": null,
"transcript": "ENST00000688578.1",
"protein_id": "ENSP00000509628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.327+2T>C",
"hgvs_p": null,
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.270+2T>C",
"hgvs_p": null,
"transcript": "ENST00000421461.6",
"protein_id": "ENSP00000408570.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.423+2T>C",
"hgvs_p": null,
"transcript": "ENST00000424585.1",
"protein_id": "ENSP00000404876.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.*862-734A>G",
"hgvs_p": null,
"transcript": "ENST00000454583.6",
"protein_id": "ENSP00000404882.2",
"transcript_support_level": 2,
"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": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "n.225+2T>C",
"hgvs_p": null,
"transcript": "ENST00000498015.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "n.2656+2T>C",
"hgvs_p": null,
"transcript": "ENST00000693000.1",
"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": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8494,
"cds_start": -4,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8494,
"cds_start": -4,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8494,
"cds_start": -4,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": 165,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23742+2T>C",
"hgvs_p": null,
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8494,
"cds_start": -4,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 181,
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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": "LP:9 US:1",
"phenotype_combined": "Nemaline myopathy 2|not specified|not provided|Arthrogryposis multiplex congenita 6|Nemaline myopathy 2;Arthrogryposis multiplex congenita 6|Nemaline myopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
"message": null
}