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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: 10-33180326-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=33180326&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 33180326,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003873.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2522A>G",
"hgvs_p": "p.Lys841Arg",
"transcript": "NM_003873.7",
"protein_id": "NP_003864.5",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 923,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374867.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003873.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2522A>G",
"hgvs_p": "p.Lys841Arg",
"transcript": "ENST00000374867.7",
"protein_id": "ENSP00000364001.2",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 923,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003873.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374867.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2471A>G",
"hgvs_p": "p.Lys824Arg",
"transcript": "ENST00000395995.5",
"protein_id": "ENSP00000379317.1",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 906,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395995.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.1958A>G",
"hgvs_p": "p.Lys653Arg",
"transcript": "ENST00000374875.5",
"protein_id": "ENSP00000364009.1",
"transcript_support_level": 1,
"aa_start": 653,
"aa_end": null,
"aa_length": 735,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374875.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2525A>G",
"hgvs_p": "p.Lys842Arg",
"transcript": "ENST00000897564.1",
"protein_id": "ENSP00000567623.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 924,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897564.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2522A>G",
"hgvs_p": "p.Lys841Arg",
"transcript": "ENST00000265371.8",
"protein_id": "ENSP00000265371.3",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 923,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265371.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2519A>G",
"hgvs_p": "p.Lys840Arg",
"transcript": "ENST00000949864.1",
"protein_id": "ENSP00000619923.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 922,
"cds_start": 2519,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949864.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "ENST00000949868.1",
"protein_id": "ENSP00000619927.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 920,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949868.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2504A>G",
"hgvs_p": "p.Lys835Arg",
"transcript": "NM_001244972.2",
"protein_id": "NP_001231901.2",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 917,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244972.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2504A>G",
"hgvs_p": "p.Lys835Arg",
"transcript": "ENST00000897565.1",
"protein_id": "ENSP00000567624.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 917,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897565.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Lys834Arg",
"transcript": "NM_001244973.2",
"protein_id": "NP_001231902.2",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 916,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244973.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "ENST00000949862.1",
"protein_id": "ENSP00000619921.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 915,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949862.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "ENST00000949863.1",
"protein_id": "ENSP00000619922.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 915,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949863.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2495A>G",
"hgvs_p": "p.Lys832Arg",
"transcript": "ENST00000949872.1",
"protein_id": "ENSP00000619931.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 914,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949872.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2471A>G",
"hgvs_p": "p.Lys824Arg",
"transcript": "NM_001330068.2",
"protein_id": "NP_001316997.2",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 906,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330068.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2420A>G",
"hgvs_p": "p.Lys807Arg",
"transcript": "ENST00000949861.1",
"protein_id": "ENSP00000619920.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 889,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949861.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"transcript": "ENST00000897563.1",
"protein_id": "ENSP00000567622.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 888,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897563.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2387A>G",
"hgvs_p": "p.Lys796Arg",
"transcript": "ENST00000949865.1",
"protein_id": "ENSP00000619924.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 878,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949865.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2384A>G",
"hgvs_p": "p.Lys795Arg",
"transcript": "ENST00000949867.1",
"protein_id": "ENSP00000619926.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 877,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949867.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2366A>G",
"hgvs_p": "p.Lys789Arg",
"transcript": "ENST00000949866.1",
"protein_id": "ENSP00000619925.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 871,
"cds_start": 2366,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949866.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2363A>G",
"hgvs_p": "p.Lys788Arg",
"transcript": "ENST00000949873.1",
"protein_id": "ENSP00000619932.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 870,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949873.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2345A>G",
"hgvs_p": "p.Lys782Arg",
"transcript": "ENST00000949869.1",
"protein_id": "ENSP00000619928.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 864,
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.28,
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{
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"pathogenic_score": 2,
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"BP4_Moderate"
],
"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
}