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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: 2-151506954-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151506954&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NEB",
"hgnc_id": 7720,
"hgvs_c": "c.23616G>A",
"hgvs_p": "p.Thr7872Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_001271208.2",
"verdict": "Benign"
},
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RIF1",
"hgnc_id": 23207,
"hgvs_c": "n.8879C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -18,
"transcript": "XR_007077529.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_score": -18,
"allele_count_reference_population": 3312,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "2",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Nemaline myopathy 2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07400000095367432,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25578,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "NM_001164507.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000427231.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157979.2",
"strand": false,
"transcript": "NM_001164507.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25578,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "NM_001164508.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397345.8",
"protein_coding": true,
"protein_id": "NP_001157980.2",
"strand": false,
"transcript": "NM_001164508.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25578,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "ENST00000397345.8",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001164508.2",
"protein_coding": true,
"protein_id": "ENSP00000380505.3",
"strand": false,
"transcript": "ENST00000397345.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25578,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 182,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "ENST00000427231.7",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001164507.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416578.2",
"strand": false,
"transcript": "ENST00000427231.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8560,
"aa_ref": "T",
"aa_start": 7872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26296,
"cdna_start": 23808,
"cds_end": null,
"cds_length": 25683,
"cds_start": 23616,
"consequences": [
"synonymous_variant"
],
"exon_count": 183,
"exon_rank": 164,
"exon_rank_end": null,
"feature": "NM_001271208.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23616G>A",
"hgvs_p": "p.Thr7872Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258137.2",
"strand": false,
"transcript": "NM_001271208.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 6669,
"aa_ref": "T",
"aa_start": 6136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20623,
"cdna_start": 18600,
"cds_end": null,
"cds_length": 20010,
"cds_start": 18408,
"consequences": [
"synonymous_variant"
],
"exon_count": 150,
"exon_rank": 136,
"exon_rank_end": null,
"feature": "NM_004543.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.18408G>A",
"hgvs_p": "p.Thr6136Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004534.3",
"strand": false,
"transcript": "NM_004543.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 6669,
"aa_ref": "T",
"aa_start": 6136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20637,
"cdna_start": 18611,
"cds_end": null,
"cds_length": 20010,
"cds_start": 18408,
"consequences": [
"synonymous_variant"
],
"exon_count": 150,
"exon_rank": 136,
"exon_rank_end": null,
"feature": "ENST00000409198.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.18408G>A",
"hgvs_p": "p.Thr6136Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386259.1",
"strand": false,
"transcript": "ENST00000409198.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 3007,
"aa_ref": "T",
"aa_start": 2567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9443,
"cdna_start": 7701,
"cds_end": null,
"cds_length": 9024,
"cds_start": 7701,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000413693.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.7701G>A",
"hgvs_p": "p.Thr2567Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410961.1",
"strand": false,
"transcript": "ENST00000413693.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "T",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 3885,
"cds_start": 2841,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000434685.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.2841G>A",
"hgvs_p": "p.Thr947Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389074.2",
"strand": false,
"transcript": "ENST00000434685.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 724,
"aa_ref": "T",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 296,
"cds_end": null,
"cds_length": 2175,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000688578.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.294G>A",
"hgvs_p": "p.Thr98Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509628.1",
"strand": false,
"transcript": "ENST00000688578.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 658,
"aa_ref": "T",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 98,
"cds_end": null,
"cds_length": 1977,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000397337.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.96G>A",
"hgvs_p": "p.Thr32Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380498.2",
"strand": false,
"transcript": "ENST00000397337.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 399,
"aa_ref": "T",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 40,
"cds_end": null,
"cds_length": 1200,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000421461.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Thr13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408570.2",
"strand": false,
"transcript": "ENST00000421461.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 254,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": 192,
"cds_end": null,
"cds_length": 766,
"cds_start": 192,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424585.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Thr64Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404876.1",
"strand": false,
"transcript": "ENST00000424585.1",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25485,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "XM_005246590.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246647.1",
"strand": false,
"transcript": "XM_005246590.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25485,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "XM_005246591.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246648.1",
"strand": false,
"transcript": "XM_005246591.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25485,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "XM_005246592.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246649.1",
"strand": false,
"transcript": "XM_005246592.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 8494,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 23703,
"cds_end": null,
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"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "XM_005246593.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246650.1",
"strand": false,
"transcript": "XM_005246593.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25485,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "XM_005246594.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246651.1",
"strand": false,
"transcript": "XM_005246594.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8488,
"aa_ref": "T",
"aa_start": 7800,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26080,
"cdna_start": 23592,
"cds_end": null,
"cds_length": 25467,
"cds_start": 23400,
"consequences": [
"synonymous_variant"
],
"exon_count": 181,
"exon_rank": 162,
"exon_rank_end": null,
"feature": "XM_017004177.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23400G>A",
"hgvs_p": "p.Thr7800Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859666.1",
"strand": false,
"transcript": "XM_017004177.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "T",
"aa_start": 7837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 23703,
"cds_end": null,
"cds_length": 25392,
"cds_start": 23511,
"consequences": [
"synonymous_variant"
],
"exon_count": 180,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "XM_005246596.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23511G>A",
"hgvs_p": "p.Thr7837Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246653.1",
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