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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: 1-156732325-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156732325&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156732325,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015997.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "NM_015997.4",
"protein_id": "NP_057081.3",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 475,
"cds_start": 281,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368216.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015997.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000368216.9",
"protein_id": "ENSP00000357199.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 475,
"cds_start": 281,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015997.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368216.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000476229.5",
"protein_id": "ENSP00000430787.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476229.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000484742.5",
"protein_id": "ENSP00000429053.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484742.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "XM_047421937.1",
"protein_id": "XP_047277893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"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_047421937.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000917461.1",
"protein_id": "ENSP00000587520.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 459,
"cds_start": 281,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917461.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000892486.1",
"protein_id": "ENSP00000562545.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 456,
"cds_start": 281,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892486.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000519086.5",
"protein_id": "ENSP00000429756.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 344,
"cds_start": 281,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519086.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000892485.1",
"protein_id": "ENSP00000562544.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 309,
"cds_start": 281,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892485.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000892483.1",
"protein_id": "ENSP00000562542.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 290,
"cds_start": 281,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892483.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Thr92Met",
"transcript": "ENST00000917458.1",
"protein_id": "ENSP00000587517.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 288,
"cds_start": 275,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917458.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "NM_001142560.2",
"protein_id": "NP_001136032.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 277,
"cds_start": 281,
"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": "NM_001142560.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "ENST00000368218.8",
"protein_id": "ENSP00000357201.4",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 277,
"cds_start": 281,
"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": "ENST00000368218.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "XM_005245234.6",
"protein_id": "XP_005245291.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 443,
"cds_start": 281,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245234.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Thr28Met",
"transcript": "XM_011509600.2",
"protein_id": "XP_011507902.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 409,
"cds_start": 83,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509600.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Thr28Met",
"transcript": "XM_017001404.2",
"protein_id": "XP_016856893.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 409,
"cds_start": 83,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001404.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "XM_047421932.1",
"protein_id": "XP_047277888.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 373,
"cds_start": 281,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421932.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "XM_005245236.6",
"protein_id": "XP_005245293.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 328,
"cds_start": 281,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245236.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "XM_005245237.6",
"protein_id": "XP_005245294.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 321,
"cds_start": 281,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245237.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "XM_024447421.2",
"protein_id": "XP_024303189.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 296,
"cds_start": 281,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447421.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.His52His",
"transcript": "ENST00000524343.1",
"protein_id": "ENSP00000429389.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 94,
"cds_start": 156,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000476229.5",
"protein_id": "ENSP00000430787.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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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
}