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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: 11-46751219-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46751219&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46751219,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001008938.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "NM_001008938.4",
"protein_id": "NP_001008938.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000529230.6",
"protein_id": "ENSP00000432768.1",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5179G>A",
"hgvs_p": "p.Glu1727Lys",
"transcript": "ENST00000354558.7",
"protein_id": "ENSP00000346566.3",
"transcript_support_level": 1,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5179,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "n.2338G>A",
"hgvs_p": null,
"transcript": "ENST00000533413.5",
"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": "ENST00000533413.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5386G>A",
"hgvs_p": "p.Glu1796Lys",
"transcript": "ENST00000928128.1",
"protein_id": "ENSP00000598187.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 2041,
"cds_start": 5386,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5380G>A",
"hgvs_p": "p.Glu1794Lys",
"transcript": "ENST00000928119.1",
"protein_id": "ENSP00000598178.1",
"transcript_support_level": null,
"aa_start": 1794,
"aa_end": null,
"aa_length": 2039,
"cds_start": 5380,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000874207.1",
"protein_id": "ENSP00000544266.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000874209.1",
"protein_id": "ENSP00000544268.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000928122.1",
"protein_id": "ENSP00000598181.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000928133.1",
"protein_id": "ENSP00000598192.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000928134.1",
"protein_id": "ENSP00000598193.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000968904.1",
"protein_id": "ENSP00000638963.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5353G>A",
"hgvs_p": "p.Glu1785Lys",
"transcript": "ENST00000968903.1",
"protein_id": "ENSP00000638962.1",
"transcript_support_level": null,
"aa_start": 1785,
"aa_end": null,
"aa_length": 2030,
"cds_start": 5353,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5317G>A",
"hgvs_p": "p.Glu1773Lys",
"transcript": "ENST00000874208.1",
"protein_id": "ENSP00000544267.1",
"transcript_support_level": null,
"aa_start": 1773,
"aa_end": null,
"aa_length": 2018,
"cds_start": 5317,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys",
"transcript": "ENST00000928127.1",
"protein_id": "ENSP00000598186.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5359,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5275G>A",
"hgvs_p": "p.Glu1759Lys",
"transcript": "ENST00000928121.1",
"protein_id": "ENSP00000598180.1",
"transcript_support_level": null,
"aa_start": 1759,
"aa_end": null,
"aa_length": 2004,
"cds_start": 5275,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5245G>A",
"hgvs_p": "p.Glu1749Lys",
"transcript": "ENST00000928124.1",
"protein_id": "ENSP00000598183.1",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1994,
"cds_start": 5245,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5209G>A",
"hgvs_p": "p.Glu1737Lys",
"transcript": "ENST00000928120.1",
"protein_id": "ENSP00000598179.1",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5209,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5179G>A",
"hgvs_p": "p.Glu1727Lys",
"transcript": "NM_014756.4",
"protein_id": "NP_055571.2",
"transcript_support_level": null,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5179,
"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": "NM_014756.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5179G>A",
"hgvs_p": "p.Glu1727Lys",
"transcript": "ENST00000312055.9",
"protein_id": "ENSP00000310227.5",
"transcript_support_level": 5,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5179,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5173G>A",
"hgvs_p": "p.Glu1725Lys",
"transcript": "ENST00000928123.1",
"protein_id": "ENSP00000598182.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5173,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928123.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5161G>A",
"hgvs_p": "p.Glu1721Lys",
"transcript": "ENST00000928132.1",
"protein_id": "ENSP00000598191.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5161,
"cds_end": null,
"cds_length": 5901,
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{
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{
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{
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{
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{
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},
{
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],
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"protein_id": "ENSP00000434523.1",
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"biotype": "protein_coding",
"feature": "ENST00000525896.1"
}
],
"gene_symbol": "CKAP5",
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"dbsnp": "rs1333431017",
"frequency_reference_population": 0.0000024782225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7046040296554565,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.7104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001008938.4",
"gene_symbol": "CKAP5",
"hgnc_id": 28959,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5359G>A",
"hgvs_p": "p.Glu1787Lys"
}
],
"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
}