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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: 3-47848246-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47848246&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47848246,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138615.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "NM_138615.3",
"protein_id": "NP_619520.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445061.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138615.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000445061.6",
"protein_id": "ENSP00000405620.1",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138615.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445061.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*2253C>T",
"hgvs_p": null,
"transcript": "ENST00000395745.6",
"protein_id": "ENSP00000379094.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000395745.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*2253C>T",
"hgvs_p": null,
"transcript": "ENST00000395745.6",
"protein_id": "ENSP00000379094.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000395745.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2437C>T",
"hgvs_p": "p.Arg813Cys",
"transcript": "ENST00000457607.1",
"protein_id": "ENSP00000394682.1",
"transcript_support_level": 5,
"aa_start": 813,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2437,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457607.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Cys",
"transcript": "ENST00000954991.1",
"protein_id": "ENSP00000625050.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1212,
"cds_start": 2407,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954991.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000954992.1",
"protein_id": "ENSP00000625051.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954992.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000876607.1",
"protein_id": "ENSP00000546666.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876607.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000876610.1",
"protein_id": "ENSP00000546669.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876610.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000876611.1",
"protein_id": "ENSP00000546670.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876611.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000876614.1",
"protein_id": "ENSP00000546673.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876614.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000876615.1",
"protein_id": "ENSP00000546674.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876615.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000876617.1",
"protein_id": "ENSP00000546676.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876617.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000923019.1",
"protein_id": "ENSP00000593078.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923019.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000954993.1",
"protein_id": "ENSP00000625052.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954993.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Cys",
"transcript": "NM_001330990.2",
"protein_id": "NP_001317919.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2269,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330990.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Cys",
"transcript": "ENST00000348968.8",
"protein_id": "ENSP00000343442.4",
"transcript_support_level": 5,
"aa_start": 757,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2269,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348968.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2257C>T",
"hgvs_p": "p.Arg753Cys",
"transcript": "ENST00000876608.1",
"protein_id": "ENSP00000546667.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876608.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2257C>T",
"hgvs_p": "p.Arg753Cys",
"transcript": "ENST00000923018.1",
"protein_id": "ENSP00000593077.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923018.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2257C>T",
"hgvs_p": "p.Arg753Cys",
"transcript": "ENST00000954988.1",
"protein_id": "ENSP00000625047.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954988.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2257C>T",
"hgvs_p": "p.Arg753Cys",
"transcript": "ENST00000954989.1",
"protein_id": "ENSP00000625048.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954989.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.2242C>T",
"hgvs_p": "p.Arg748Cys",
"transcript": "ENST00000876609.1",
"protein_id": "ENSP00000546668.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2242,
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{
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"PM5",
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"verdict": "Pathogenic",
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"clinvar_disease": "Inborn genetic diseases,Neurodevelopmental disorder with severe motor impairment and absent language,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "not provided|Neurodevelopmental disorder with severe motor impairment and absent language|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}