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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: 9-136669988-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136669988&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136669988,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016215.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "NM_016215.5",
"protein_id": "NP_057299.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308874.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016215.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000308874.12",
"protein_id": "ENSP00000307843.7",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016215.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308874.12"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000371698.3",
"protein_id": "ENSP00000360763.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371698.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000406555.7",
"protein_id": "ENSP00000385639.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406555.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000917153.1",
"protein_id": "ENSP00000587212.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 369,
"cds_start": 388,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917153.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "NM_201446.3",
"protein_id": "NP_958854.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201446.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000371699.5",
"protein_id": "ENSP00000360764.1",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371699.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893633.1",
"protein_id": "ENSP00000563692.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893633.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893634.1",
"protein_id": "ENSP00000563693.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893634.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893635.1",
"protein_id": "ENSP00000563694.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893635.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893636.1",
"protein_id": "ENSP00000563695.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893636.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893637.1",
"protein_id": "ENSP00000563696.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893637.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893638.1",
"protein_id": "ENSP00000563697.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893638.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893639.1",
"protein_id": "ENSP00000563698.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893639.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893640.1",
"protein_id": "ENSP00000563699.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893640.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893641.1",
"protein_id": "ENSP00000563700.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893641.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893642.1",
"protein_id": "ENSP00000563701.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893642.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893643.1",
"protein_id": "ENSP00000563702.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893643.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893644.1",
"protein_id": "ENSP00000563703.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893644.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893645.1",
"protein_id": "ENSP00000563704.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893645.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893646.1",
"protein_id": "ENSP00000563705.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893646.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFL7",
"gene_hgnc_id": 20594,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000893647.1",
"protein_id": "ENSP00000563706.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 273,
"cds_start": 388,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
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{
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],
"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
}