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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: 1-23431093-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23431093&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23431093,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017707.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "NM_017707.4",
"protein_id": "NP_060177.2",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 903,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336689.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017707.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "ENST00000336689.8",
"protein_id": "ENSP00000338769.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 903,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017707.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336689.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2648C>G",
"hgvs_p": "p.Ala883Gly",
"transcript": "ENST00000948796.1",
"protein_id": "ENSP00000618855.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2648,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948796.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"transcript": "ENST00000857995.1",
"protein_id": "ENSP00000528054.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 924,
"cds_start": 2642,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857995.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2567C>G",
"hgvs_p": "p.Ala856Gly",
"transcript": "ENST00000857997.1",
"protein_id": "ENSP00000528056.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 899,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857997.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2552C>G",
"hgvs_p": "p.Ala851Gly",
"transcript": "NM_001143778.2",
"protein_id": "NP_001137250.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 894,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143778.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2552C>G",
"hgvs_p": "p.Ala851Gly",
"transcript": "ENST00000437606.6",
"protein_id": "ENSP00000408826.2",
"transcript_support_level": 2,
"aa_start": 851,
"aa_end": null,
"aa_length": 894,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437606.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2534C>G",
"hgvs_p": "p.Ala845Gly",
"transcript": "ENST00000948797.1",
"protein_id": "ENSP00000618856.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 888,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948797.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2528C>G",
"hgvs_p": "p.Ala843Gly",
"transcript": "ENST00000857996.1",
"protein_id": "ENSP00000528055.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 886,
"cds_start": 2528,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857996.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2447C>G",
"hgvs_p": "p.Ala816Gly",
"transcript": "ENST00000931115.1",
"protein_id": "ENSP00000601174.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 859,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931115.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2207C>G",
"hgvs_p": "p.Ala736Gly",
"transcript": "ENST00000948795.1",
"protein_id": "ENSP00000618854.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 779,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948795.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2186C>G",
"hgvs_p": "p.Ala729Gly",
"transcript": "ENST00000711427.1",
"protein_id": "ENSP00000518744.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 772,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711427.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.1253C>G",
"hgvs_p": "p.Ala418Gly",
"transcript": "ENST00000465372.6",
"protein_id": "ENSP00000435394.2",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 461,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465372.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.1091C>G",
"hgvs_p": "p.Ala364Gly",
"transcript": "ENST00000495646.5",
"protein_id": "ENSP00000436150.1",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 407,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495646.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2648C>G",
"hgvs_p": "p.Ala883Gly",
"transcript": "XM_011541755.3",
"protein_id": "XP_011540057.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2648,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541755.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"transcript": "XM_017001685.3",
"protein_id": "XP_016857174.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 924,
"cds_start": 2642,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001685.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2585C>G",
"hgvs_p": "p.Ala862Gly",
"transcript": "XM_017001686.3",
"protein_id": "XP_016857175.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 905,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001686.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2519C>G",
"hgvs_p": "p.Ala840Gly",
"transcript": "XM_017001687.1",
"protein_id": "XP_016857176.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 883,
"cds_start": 2519,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001687.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2249C>G",
"hgvs_p": "p.Ala750Gly",
"transcript": "XM_017001688.3",
"protein_id": "XP_016857177.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 793,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001688.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Ala731Gly",
"transcript": "XM_017001689.2",
"protein_id": "XP_016857178.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 774,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001689.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2186C>G",
"hgvs_p": "p.Ala729Gly",
"transcript": "XM_047424481.1",
"protein_id": "XP_047280437.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 772,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*2476C>G",
"hgvs_p": null,
"transcript": "ENST00000492982.6",
"protein_id": "ENSP00000435858.1",
"transcript_support_level": 2,
"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,
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],
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}