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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: 13-79354455-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=79354455&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBM26",
"hgnc_id": 20327,
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Ser659Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001286631.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1396,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13117370009422302,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "S",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 3024,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001366735.2",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Ser657Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438737.3",
"protein_coding": true,
"protein_id": "NP_001353664.1",
"strand": false,
"transcript": "NM_001366735.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "S",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 3024,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000438737.3",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Ser657Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366735.2",
"protein_coding": true,
"protein_id": "ENSP00000387531.2",
"strand": false,
"transcript": "ENST00000438737.3",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 983,
"aa_ref": "S",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2952,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000438724.5",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Ser657Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390222.1",
"strand": false,
"transcript": "ENST00000438724.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 980,
"aa_ref": "S",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 2943,
"cds_start": 1961,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000267229.11",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ser654Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000267229.7",
"strand": false,
"transcript": "ENST00000267229.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "S",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4201,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 3069,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915849.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Ser672Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585908.1",
"strand": false,
"transcript": "ENST00000915849.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862496.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Ser669Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532555.1",
"strand": false,
"transcript": "ENST00000862496.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "S",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862501.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.2000C>T",
"hgvs_p": "p.Ser667Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532560.1",
"strand": false,
"transcript": "ENST00000862501.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "S",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 3045,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915848.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Ser664Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585907.1",
"strand": false,
"transcript": "ENST00000915848.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "S",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969728.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Ser663Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639787.1",
"strand": false,
"transcript": "ENST00000969728.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "S",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862504.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1985C>T",
"hgvs_p": "p.Ser662Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532563.1",
"strand": false,
"transcript": "ENST00000862504.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "S",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5264,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 3030,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001286631.2",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Ser659Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273560.1",
"strand": false,
"transcript": "NM_001286631.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "S",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 3030,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000622611.4",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Ser659Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483408.1",
"strand": false,
"transcript": "ENST00000622611.4",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4182,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 3021,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862503.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1967C>T",
"hgvs_p": "p.Ser656Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532562.1",
"strand": false,
"transcript": "ENST00000862503.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "S",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 3015,
"cds_start": 1961,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862498.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ser654Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532557.1",
"strand": false,
"transcript": "ENST00000862498.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "S",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 3012,
"cds_start": 1958,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862508.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Ser653Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532567.1",
"strand": false,
"transcript": "ENST00000862508.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 998,
"aa_ref": "S",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862510.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Ser672Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532569.1",
"strand": false,
"transcript": "ENST00000862510.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 995,
"aa_ref": "S",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3682,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862509.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Ser669Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532568.1",
"strand": false,
"transcript": "ENST00000862509.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 993,
"aa_ref": "S",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862497.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.2000C>T",
"hgvs_p": "p.Ser667Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532556.1",
"strand": false,
"transcript": "ENST00000862497.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 992,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915847.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Ser666Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585906.1",
"strand": false,
"transcript": "ENST00000915847.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 990,
"aa_ref": "S",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3788,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2973,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862507.1",
"gene_hgnc_id": 20327,
"gene_symbol": "RBM26",
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Ser664Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532566.1",
"strand": false,
"transcript": "ENST00000862507.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 989,
"aa_ref": "S",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862506.1",
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