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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: 22-42560205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42560205&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42560205,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014509.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "NM_014509.5",
"protein_id": "NP_055324.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 314,
"cds_start": 553,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327678.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014509.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "ENST00000327678.10",
"protein_id": "ENSP00000331376.5",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 314,
"cds_start": 553,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014509.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327678.10"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.His121Tyr",
"transcript": "ENST00000335879.5",
"protein_id": "ENSP00000336578.5",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 250,
"cds_start": 361,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335879.5"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.37-24C>T",
"hgvs_p": null,
"transcript": "ENST00000407614.8",
"protein_id": "ENSP00000385691.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407614.8"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RRP7BP",
"gene_hgnc_id": null,
"hgvs_c": "n.925-3531G>A",
"hgvs_p": null,
"transcript": "ENST00000357802.7",
"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": "pseudogene",
"feature": "ENST00000357802.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "ENST00000968687.1",
"protein_id": "ENSP00000638746.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 345,
"cds_start": 553,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968687.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "ENST00000968684.1",
"protein_id": "ENSP00000638743.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 341,
"cds_start": 553,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968684.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.His171Tyr",
"transcript": "ENST00000968688.1",
"protein_id": "ENSP00000638747.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 330,
"cds_start": 511,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968688.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.His171Tyr",
"transcript": "ENST00000968686.1",
"protein_id": "ENSP00000638745.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 327,
"cds_start": 511,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968686.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "ENST00000968685.1",
"protein_id": "ENSP00000638744.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 313,
"cds_start": 553,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968685.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.His171Tyr",
"transcript": "ENST00000876813.1",
"protein_id": "ENSP00000546872.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 300,
"cds_start": 511,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876813.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.His171Tyr",
"transcript": "ENST00000968683.1",
"protein_id": "ENSP00000638742.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 299,
"cds_start": 511,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968683.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.His146Tyr",
"transcript": "ENST00000876812.1",
"protein_id": "ENSP00000546871.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 275,
"cds_start": 436,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876812.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.His121Tyr",
"transcript": "NM_001284334.2",
"protein_id": "NP_001271263.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 250,
"cds_start": 361,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284334.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "XM_024452196.2",
"protein_id": "XP_024307964.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 341,
"cds_start": 553,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452196.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "XM_047441295.1",
"protein_id": "XP_047297251.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 340,
"cds_start": 553,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441295.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "XM_047441296.1",
"protein_id": "XP_047297252.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 329,
"cds_start": 553,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441296.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.His171Tyr",
"transcript": "XM_047441297.1",
"protein_id": "XP_047297253.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 315,
"cds_start": 511,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441297.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "XM_047441298.1",
"protein_id": "XP_047297254.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 313,
"cds_start": 553,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441298.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.His171Tyr",
"transcript": "XM_017028739.3",
"protein_id": "XP_016884228.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 300,
"cds_start": 511,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028739.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.His122Tyr",
"transcript": "XM_047441299.1",
"protein_id": "XP_047297255.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 277,
"cds_start": 364,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441299.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERHL2",
"gene_hgnc_id": 29446,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr",
"transcript": "XM_047441300.1",
"protein_id": "XP_047297256.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 217,
"cds_start": 553,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441300.1"
},
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"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014509.5",
"gene_symbol": "SERHL2",
"hgnc_id": 29446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.553C>T",
"hgvs_p": "p.His185Tyr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357802.7",
"gene_symbol": "RRP7BP",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.925-3531G>A",
"hgvs_p": null
}
],
"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
}