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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: 16-75169254-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75169254&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75169254,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001318475.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "NM_153688.4",
"protein_id": "NP_710155.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000570010.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153688.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "ENST00000570010.6",
"protein_id": "ENSP00000457044.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153688.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570010.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "ENST00000393430.6",
"protein_id": "ENSP00000377080.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"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": "ENST00000393430.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.45A>G",
"hgvs_p": "p.Glu15Glu",
"transcript": "ENST00000332307.4",
"protein_id": "ENSP00000333192.4",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 374,
"cds_start": 45,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332307.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.-22A>G",
"hgvs_p": null,
"transcript": "NM_001318473.2",
"protein_id": "NP_001305402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318473.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.-22A>G",
"hgvs_p": null,
"transcript": "NM_001318474.2",
"protein_id": "NP_001305403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318474.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "NM_001318475.2",
"protein_id": "NP_001305404.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 76,
"cds_start": 161,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318475.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "NM_001318476.2",
"protein_id": "NP_001305405.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 76,
"cds_start": 161,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318476.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000464850.5",
"protein_id": "ENSP00000457941.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 76,
"cds_start": 161,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464850.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000567481.1",
"protein_id": "ENSP00000455627.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 76,
"cds_start": 161,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567481.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Lys6Arg",
"transcript": "ENST00000568079.5",
"protein_id": "ENSP00000454286.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 28,
"cds_start": 17,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568079.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "XM_024450168.2",
"protein_id": "XP_024305936.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 76,
"cds_start": 161,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450168.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "NM_001318469.2",
"protein_id": "NP_001305398.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"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": "NM_001318469.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "ENST00000870669.1",
"protein_id": "ENSP00000540728.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"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": "ENST00000870669.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "ENST00000870671.1",
"protein_id": "ENSP00000540730.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"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": "ENST00000870671.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.45A>G",
"hgvs_p": "p.Glu15Glu",
"transcript": "NM_001318471.2",
"protein_id": "NP_001305400.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 374,
"cds_start": 45,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318471.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.45A>G",
"hgvs_p": "p.Glu15Glu",
"transcript": "NM_001318472.2",
"protein_id": "NP_001305401.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 374,
"cds_start": 45,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318472.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.288A>G",
"hgvs_p": "p.Glu96Glu",
"transcript": "XM_047433668.1",
"protein_id": "XP_047289624.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 455,
"cds_start": 288,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433668.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Glu74Glu",
"transcript": "XM_011522921.3",
"protein_id": "XP_011521223.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 433,
"cds_start": 222,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522921.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Glu48Glu",
"transcript": "XM_047433669.1",
"protein_id": "XP_047289625.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 144,
"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": "XM_047433669.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.45A>G",
"hgvs_p": "p.Glu15Glu",
"transcript": "XM_047433670.1",
"protein_id": "XP_047289626.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 374,
"cds_start": 45,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP1",
"gene_hgnc_id": 23328,
"hgvs_c": "c.-22A>G",
"hgvs_p": null,
"transcript": "NM_001318473.2",
"protein_id": "NP_001305402.1",
"transcript_support_level": null,
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{
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{
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"intron_variant"
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{
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"intron_variant"
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{
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"splice_region_variant",
"non_coding_transcript_exon_variant"
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"gene_symbol": "ZFP1",
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"biotype": "pseudogene",
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],
"gene_symbol": "ZFP1",
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"dbsnp": "rs376091706",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000172344,
"gnomad_genomes_af": 0.0000131468,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10189849138259888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0824,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.741,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.53,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.0000654856021318496,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318475.2",
"gene_symbol": "ZFP1",
"hgnc_id": 23328,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}