← Back to variant description
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: 6-12292382-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12292382&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 12292382,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001955.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "NM_001955.5",
"protein_id": "NP_001946.3",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379375.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001955.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000379375.6",
"protein_id": "ENSP00000368683.5",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001955.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379375.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877370.1",
"protein_id": "ENSP00000547429.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 220,
"cds_start": 106,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877370.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000971811.1",
"protein_id": "ENSP00000641870.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 220,
"cds_start": 106,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971811.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Gly35Arg",
"transcript": "ENST00000877373.1",
"protein_id": "ENSP00000547432.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 219,
"cds_start": 103,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877373.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "NM_001416563.1",
"protein_id": "NP_001403492.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416563.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "NM_001416564.1",
"protein_id": "NP_001403493.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416564.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "NM_001416565.1",
"protein_id": "NP_001403494.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416565.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877364.1",
"protein_id": "ENSP00000547423.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877364.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877365.1",
"protein_id": "ENSP00000547424.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877365.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877366.1",
"protein_id": "ENSP00000547425.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877366.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877367.1",
"protein_id": "ENSP00000547426.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877367.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877368.1",
"protein_id": "ENSP00000547427.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877368.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877371.1",
"protein_id": "ENSP00000547430.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877371.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000877372.1",
"protein_id": "ENSP00000547431.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877372.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000916855.1",
"protein_id": "ENSP00000586914.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916855.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000971814.1",
"protein_id": "ENSP00000641873.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 212,
"cds_start": 106,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971814.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Gly35Arg",
"transcript": "NM_001168319.2",
"protein_id": "NP_001161791.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 211,
"cds_start": 103,
"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": "NM_001168319.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Gly35Arg",
"transcript": "ENST00000877369.1",
"protein_id": "ENSP00000547428.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 211,
"cds_start": 103,
"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": "ENST00000877369.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Gly35Arg",
"transcript": "ENST00000971812.1",
"protein_id": "ENSP00000641871.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 211,
"cds_start": 103,
"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": "ENST00000971812.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Gly35Arg",
"transcript": "ENST00000971813.1",
"protein_id": "ENSP00000641872.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 211,
"cds_start": 103,
"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": "ENST00000971813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302734",
"gene_hgnc_id": null,
"hgvs_c": "n.70+18799C>T",
"hgvs_p": null,
"transcript": "ENST00000789282.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000789282.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302734",
"gene_hgnc_id": null,
"hgvs_c": "n.26-1586C>T",
"hgvs_p": null,
"transcript": "ENST00000789283.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000789283.1"
}
],
"gene_symbol": "EDN1",
"gene_hgnc_id": 3176,
"dbsnp": "rs183694577",
"frequency_reference_population": 0.0002242936,
"hom_count_reference_population": 3,
"allele_count_reference_population": 362,
"gnomad_exomes_af": 0.000199776,
"gnomad_genomes_af": 0.000459571,
"gnomad_exomes_ac": 292,
"gnomad_genomes_ac": 70,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006342470645904541,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.0938,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.761,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001955.5",
"gene_symbol": "EDN1",
"hgnc_id": 3176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000789282.1",
"gene_symbol": "ENSG00000302734",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.70+18799C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}