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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: 10-73873002-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73873002&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CAMK2G",
"hgnc_id": 1463,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001320898.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 806021,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "Intellectual developmental disorder 59,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 588,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1767,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367534.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000423381.6",
"protein_coding": true,
"protein_id": "NP_001354463.1",
"strand": false,
"transcript": "NM_001367534.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 588,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1767,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000423381.6",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367534.1",
"protein_coding": true,
"protein_id": "ENSP00000410298.3",
"strand": false,
"transcript": "ENST00000423381.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 527,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 266,
"cds_end": null,
"cds_length": 1584,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000322635.7",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315599.3",
"strand": false,
"transcript": "ENST00000322635.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000394762.7",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.-607G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378243.4",
"strand": false,
"transcript": "ENST00000394762.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 592,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1779,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320898.2",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307827.1",
"strand": false,
"transcript": "NM_001320898.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 588,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1767,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000441192.2",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405561.2",
"strand": false,
"transcript": "ENST00000441192.2",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1734,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367544.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354473.1",
"strand": false,
"transcript": "NM_001367544.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1734,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864120.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534179.1",
"strand": false,
"transcript": "ENST00000864120.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 212,
"cds_end": null,
"cds_length": 1734,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864141.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534200.1",
"strand": false,
"transcript": "ENST00000864141.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 216,
"cds_end": null,
"cds_length": 1734,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964836.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634895.1",
"strand": false,
"transcript": "ENST00000964836.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 575,
"aa_ref": "K",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 217,
"cds_end": null,
"cds_length": 1728,
"cds_start": 123,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367514.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.123G>A",
"hgvs_p": "p.Lys41Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354443.1",
"strand": false,
"transcript": "NM_001367514.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 575,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1728,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964847.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634906.1",
"strand": false,
"transcript": "ENST00000964847.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 574,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1725,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367548.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354477.1",
"strand": false,
"transcript": "NM_001367548.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 574,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 243,
"cds_end": null,
"cds_length": 1725,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864128.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534187.1",
"strand": false,
"transcript": "ENST00000864128.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 571,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1716,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367522.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354451.1",
"strand": false,
"transcript": "NM_001367522.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 569,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1710,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367520.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354449.1",
"strand": false,
"transcript": "NM_001367520.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 569,
"aa_ref": "K",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 188,
"cds_end": null,
"cds_length": 1710,
"cds_start": 123,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864137.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.123G>A",
"hgvs_p": "p.Lys41Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534196.1",
"strand": false,
"transcript": "ENST00000864137.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 569,
"aa_ref": "K",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 181,
"cds_end": null,
"cds_length": 1710,
"cds_start": 123,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864143.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.123G>A",
"hgvs_p": "p.Lys41Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534202.1",
"strand": false,
"transcript": "ENST00000864143.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 567,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1704,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864109.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534168.1",
"strand": false,
"transcript": "ENST00000864109.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 566,
"aa_ref": "K",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1701,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001367521.1",
"gene_hgnc_id": 1463,
"gene_symbol": "CAMK2G",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Lys49Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354450.1",
"strand": false,
"transcript": "NM_001367521.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 566,
"aa_ref": "K",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 274,
"cds_end": null,
"cds_length": 1701,
"cds_start": 219,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964841.1",
"gene_hgnc_id": 1463,
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