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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: 11-46809784-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46809784&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46809784,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001008938.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "NM_001008938.4",
"protein_id": "NP_001008938.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529230.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008938.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000529230.6",
"protein_id": "ENSP00000432768.1",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001008938.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529230.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000354558.7",
"protein_id": "ENSP00000346566.3",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 1972,
"cds_start": 721,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354558.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928128.1",
"protein_id": "ENSP00000598187.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2041,
"cds_start": 721,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928128.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928119.1",
"protein_id": "ENSP00000598178.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2039,
"cds_start": 721,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928119.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000874207.1",
"protein_id": "ENSP00000544266.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874207.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000874209.1",
"protein_id": "ENSP00000544268.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874209.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928122.1",
"protein_id": "ENSP00000598181.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928122.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928133.1",
"protein_id": "ENSP00000598192.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928133.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928134.1",
"protein_id": "ENSP00000598193.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928134.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000968904.1",
"protein_id": "ENSP00000638963.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2032,
"cds_start": 721,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968904.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000968903.1",
"protein_id": "ENSP00000638962.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2030,
"cds_start": 721,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968903.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000874208.1",
"protein_id": "ENSP00000544267.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2018,
"cds_start": 721,
"cds_end": null,
"cds_length": 6057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874208.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928127.1",
"protein_id": "ENSP00000598186.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2006,
"cds_start": 721,
"cds_end": null,
"cds_length": 6021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928127.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928121.1",
"protein_id": "ENSP00000598180.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 2004,
"cds_start": 721,
"cds_end": null,
"cds_length": 6015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928121.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928124.1",
"protein_id": "ENSP00000598183.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1994,
"cds_start": 721,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928124.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928120.1",
"protein_id": "ENSP00000598179.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1982,
"cds_start": 721,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928120.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "NM_014756.4",
"protein_id": "NP_055571.2",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1972,
"cds_start": 721,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014756.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000312055.9",
"protein_id": "ENSP00000310227.5",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 1972,
"cds_start": 721,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312055.9"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928123.1",
"protein_id": "ENSP00000598182.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1970,
"cds_start": 721,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928123.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.721A>C",
"hgvs_p": "p.Lys241Gln",
"transcript": "ENST00000928132.1",
"protein_id": "ENSP00000598191.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1966,
"cds_start": 721,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928132.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.514A>C",
"hgvs_p": "p.Lys172Gln",
"transcript": "ENST00000928131.1",
"protein_id": "ENSP00000598190.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1963,
"cds_start": 514,
"cds_end": null,
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{
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"clinvar_disease": "",
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"custom_annotations": null
}
],
"message": null
}