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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: 1-11022196-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11022196&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11022196,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007375.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "NM_007375.4",
"protein_id": "NP_031401.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240185.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007375.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000240185.8",
"protein_id": "ENSP00000240185.4",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007375.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240185.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.768+19A>G",
"hgvs_p": null,
"transcript": "ENST00000649624.1",
"protein_id": "ENSP00000497327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649624.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000639083.1",
"protein_id": "ENSP00000491203.1",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639083.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000881691.1",
"protein_id": "ENSP00000551750.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881691.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000913574.1",
"protein_id": "ENSP00000583633.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913574.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000913575.1",
"protein_id": "ENSP00000583634.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913575.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000913577.1",
"protein_id": "ENSP00000583636.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913577.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000958690.1",
"protein_id": "ENSP00000628749.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958690.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000958691.1",
"protein_id": "ENSP00000628750.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 414,
"cds_start": 787,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958691.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Lys206Glu",
"transcript": "ENST00000913576.1",
"protein_id": "ENSP00000583635.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 357,
"cds_start": 616,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913576.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000621790.4",
"protein_id": "ENSP00000482191.1",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 304,
"cds_start": 787,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621790.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000616545.4",
"protein_id": "ENSP00000484722.1",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 301,
"cds_start": 787,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616545.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000629725.2",
"protein_id": "ENSP00000486989.1",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 298,
"cds_start": 787,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629725.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000315091.7",
"protein_id": "ENSP00000313129.3",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 295,
"cds_start": 787,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315091.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Lys206Glu",
"transcript": "ENST00000621715.4",
"protein_id": "ENSP00000480690.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 242,
"cds_start": 616,
"cds_end": null,
"cds_length": 730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621715.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Lys176Glu",
"transcript": "ENST00000617172.4",
"protein_id": "ENSP00000479219.1",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 211,
"cds_start": 526,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617172.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Lys178Glu",
"transcript": "ENST00000622057.4",
"protein_id": "ENSP00000481206.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 199,
"cds_start": 532,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622057.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.265A>G",
"hgvs_p": "p.Lys89Glu",
"transcript": "ENST00000610369.4",
"protein_id": "ENSP00000482559.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 127,
"cds_start": 265,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610369.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.52A>G",
"hgvs_p": "p.Lys18Glu",
"transcript": "ENST00000612542.1",
"protein_id": "ENSP00000478249.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 60,
"cds_start": 52,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1397-3T>C",
"hgvs_p": null,
"transcript": "ENST00000700088.1",
"protein_id": "ENSP00000514787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "n.*368A>G",
"hgvs_p": null,
"transcript": "ENST00000439080.6",
"protein_id": "ENSP00000404666.3",
"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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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}