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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: 5-150273156-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150273156&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150273156,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_015981.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "NM_015981.4",
"protein_id": "NP_057065.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 489,
"cds_start": 65,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": "ENST00000671881.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015981.4"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000671881.1",
"protein_id": "ENSP00000500386.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 489,
"cds_start": 65,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": "NM_015981.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671881.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000348628.11",
"protein_id": "ENSP00000261793.8",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348628.11"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000398376.8",
"protein_id": "ENSP00000381412.4",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 421,
"cds_start": 65,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398376.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "n.213delG",
"hgvs_p": null,
"transcript": "ENST00000508662.5",
"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": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000508662.5"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000672396.1",
"protein_id": "ENSP00000499987.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 559,
"cds_start": 65,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672396.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000510347.2",
"protein_id": "ENSP00000426607.2",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 548,
"cds_start": 65,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510347.2"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "NM_001363989.1",
"protein_id": "NP_001350918.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 489,
"cds_start": 65,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363989.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000672829.1",
"protein_id": "ENSP00000500613.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 489,
"cds_start": 65,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672829.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000682786.1",
"protein_id": "ENSP00000507199.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 489,
"cds_start": 65,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682786.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000856241.1",
"protein_id": "ENSP00000526300.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 489,
"cds_start": 65,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856241.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000856242.1",
"protein_id": "ENSP00000526301.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 485,
"cds_start": 65,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856242.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "NM_001363990.1",
"protein_id": "NP_001350919.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363990.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "NM_001369025.2",
"protein_id": "NP_001355954.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369025.2"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "NM_171825.3",
"protein_id": "NP_741960.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171825.3"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000672479.1",
"protein_id": "ENSP00000500642.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672479.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000672752.1",
"protein_id": "ENSP00000499939.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672752.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000856243.1",
"protein_id": "ENSP00000526302.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 478,
"cds_start": 65,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856243.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000856239.1",
"protein_id": "ENSP00000526298.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 469,
"cds_start": 65,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856239.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000672785.1",
"protein_id": "ENSP00000500496.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 467,
"cds_start": 65,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672785.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
"transcript": "ENST00000683332.1",
"protein_id": "ENSP00000507006.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 458,
"cds_start": 65,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683332.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.65delG",
"hgvs_p": "p.Gly22fs",
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],
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"phylop100way_score": 7.879,
"phylop100way_prediction": "Pathogenic",
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{
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"PM2",
"PP5"
],
"verdict": "Pathogenic",
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"effects": [
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"splice_region_variant"
],
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}
],
"clinvar_disease": "Intellectual disability",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}