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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: 8-144841385-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144841385&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144841385,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001349809.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "NM_003416.4",
"protein_id": "NP_003407.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000532777.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003416.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000532777.6",
"protein_id": "ENSP00000432641.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003416.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532777.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Ala104Asp",
"transcript": "ENST00000446747.7",
"protein_id": "ENSP00000393260.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 697,
"cds_start": 311,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446747.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000528372.5",
"protein_id": "ENSP00000432724.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "n.3806C>A",
"hgvs_p": null,
"transcript": "ENST00000528017.1",
"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": "ENST00000528017.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.377C>A",
"hgvs_p": "p.Ala126Asp",
"transcript": "ENST00000533314.6",
"protein_id": "ENSP00000433630.2",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 719,
"cds_start": 377,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533314.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"transcript": "NM_001349809.2",
"protein_id": "NP_001336738.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 707,
"cds_start": 341,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349809.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.329C>A",
"hgvs_p": "p.Ala110Asp",
"transcript": "NM_001349806.2",
"protein_id": "NP_001336735.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 703,
"cds_start": 329,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349806.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.326C>A",
"hgvs_p": "p.Ala109Asp",
"transcript": "NM_001349808.2",
"protein_id": "NP_001336737.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 702,
"cds_start": 326,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349808.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Ala104Asp",
"transcript": "NM_001282795.2",
"protein_id": "NP_001269724.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 697,
"cds_start": 311,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282795.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Ala104Asp",
"transcript": "ENST00000933365.1",
"protein_id": "ENSP00000603424.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 697,
"cds_start": 311,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933365.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Ala104Asp",
"transcript": "ENST00000955409.1",
"protein_id": "ENSP00000625468.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 697,
"cds_start": 311,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955409.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000908822.1",
"protein_id": "ENSP00000578881.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908822.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000908823.1",
"protein_id": "ENSP00000578882.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908823.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000908825.1",
"protein_id": "ENSP00000578884.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908825.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000908826.1",
"protein_id": "ENSP00000578885.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908826.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000908827.1",
"protein_id": "ENSP00000578886.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908827.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000908828.1",
"protein_id": "ENSP00000578887.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908828.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000933362.1",
"protein_id": "ENSP00000603421.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933362.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000933364.1",
"protein_id": "ENSP00000603423.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933364.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000955410.1",
"protein_id": "ENSP00000625469.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 686,
"cds_start": 278,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955410.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF7",
"gene_hgnc_id": 13139,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ala92Asp",
"transcript": "NM_001349807.2",
"protein_id": "NP_001336736.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 685,
"cds_start": 275,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349807.2"
},
{
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}
],
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}