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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: 1-155248154-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155248154&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155248154,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006589.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Asp577Asn",
"transcript": "NM_006589.3",
"protein_id": "NP_006580.2",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 668,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361361.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006589.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Asp577Asn",
"transcript": "ENST00000361361.7",
"protein_id": "ENSP00000354958.2",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 668,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006589.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361361.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Asp559Asn",
"transcript": "ENST00000368368.7",
"protein_id": "ENSP00000357352.3",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 650,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368368.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Asp481Asn",
"transcript": "ENST00000350210.6",
"protein_id": "ENSP00000307128.4",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 572,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350210.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "n.1119G>A",
"hgvs_p": null,
"transcript": "ENST00000368366.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000368366.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "n.*117G>A",
"hgvs_p": null,
"transcript": "ENST00000487649.5",
"protein_id": "ENSP00000427520.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487649.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "n.*117G>A",
"hgvs_p": null,
"transcript": "ENST00000487649.5",
"protein_id": "ENSP00000427520.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487649.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Asp578Asn",
"transcript": "ENST00000851432.1",
"protein_id": "ENSP00000521491.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 669,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851432.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Asp559Asn",
"transcript": "NM_001267608.2",
"protein_id": "NP_001254537.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 650,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267608.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Asp558Asn",
"transcript": "ENST00000851437.1",
"protein_id": "ENSP00000521496.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 649,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851437.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000851433.1",
"protein_id": "ENSP00000521492.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 644,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851433.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn",
"transcript": "ENST00000927592.1",
"protein_id": "ENSP00000597651.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 632,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927592.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Asp540Asn",
"transcript": "ENST00000927595.1",
"protein_id": "ENSP00000597654.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 631,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927595.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Asp537Asn",
"transcript": "ENST00000927596.1",
"protein_id": "ENSP00000597655.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 628,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927596.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn",
"transcript": "ENST00000851436.1",
"protein_id": "ENSP00000521495.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 613,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851436.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1561G>A",
"hgvs_p": "p.Asp521Asn",
"transcript": "ENST00000851439.1",
"protein_id": "ENSP00000521498.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 612,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851439.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Asp501Asn",
"transcript": "ENST00000927594.1",
"protein_id": "ENSP00000597653.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 592,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927594.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Asp482Asn",
"transcript": "ENST00000851434.1",
"protein_id": "ENSP00000521493.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 573,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851434.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Asp481Asn",
"transcript": "NM_198264.2",
"protein_id": "NP_937995.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 572,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198264.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Asp481Asn",
"transcript": "ENST00000927590.1",
"protein_id": "ENSP00000597649.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 572,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927590.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Asp409Asn",
"transcript": "ENST00000851441.1",
"protein_id": "ENSP00000521500.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 500,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851441.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Asp395Asn",
"transcript": "ENST00000851438.1",
"protein_id": "ENSP00000521497.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 486,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}