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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: 11-22239600-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22239600&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"BP4",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Asn265Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_213599.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,BP4,BP6",
"acmg_score": 0,
"allele_count_reference_population": 36,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.065,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33229637145996094,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 913,
"aa_ref": "N",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 2742,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_213599.3",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Asn265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324559.9",
"protein_coding": true,
"protein_id": "NP_998764.1",
"strand": true,
"transcript": "NM_213599.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 913,
"aa_ref": "N",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 2742,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000324559.9",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Asn265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213599.3",
"protein_coding": true,
"protein_id": "ENSP00000315371.9",
"strand": true,
"transcript": "ENST00000324559.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 912,
"aa_ref": "N",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 2739,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001142649.2",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.791A>G",
"hgvs_p": "p.Asn264Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136121.1",
"strand": true,
"transcript": "NM_001142649.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 899,
"aa_ref": "N",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6700,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 2700,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001410963.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397892.1",
"strand": true,
"transcript": "NM_001410963.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 899,
"aa_ref": "N",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 2700,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682341.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508251.1",
"strand": true,
"transcript": "ENST00000682341.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 898,
"aa_ref": "N",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6697,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 2697,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001410964.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397893.1",
"strand": true,
"transcript": "NM_001410964.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 898,
"aa_ref": "N",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6947,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 2697,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684663.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508009.1",
"strand": true,
"transcript": "ENST00000684663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 887,
"aa_ref": "N",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6569,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 2664,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001441294.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.716A>G",
"hgvs_p": "p.Asn239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428223.1",
"strand": true,
"transcript": "NM_001441294.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 886,
"aa_ref": "N",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6566,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 2661,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001441295.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asn238Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428224.1",
"strand": true,
"transcript": "NM_001441295.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 882,
"aa_ref": "N",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 2649,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441296.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Asn234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428225.1",
"strand": true,
"transcript": "NM_001441296.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 875,
"aa_ref": "N",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6642,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 2628,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950081.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620140.1",
"strand": true,
"transcript": "ENST00000950081.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 873,
"aa_ref": "N",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6527,
"cdna_start": 987,
"cds_end": null,
"cds_length": 2622,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001441297.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.674A>G",
"hgvs_p": "p.Asn225Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428226.1",
"strand": true,
"transcript": "NM_001441297.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 861,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 2586,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441298.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428227.1",
"strand": true,
"transcript": "NM_001441298.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 861,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2586,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878905.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548964.1",
"strand": true,
"transcript": "ENST00000878905.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 860,
"aa_ref": "N",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6583,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 2583,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441299.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.635A>G",
"hgvs_p": "p.Asn212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428228.1",
"strand": true,
"transcript": "NM_001441299.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 860,
"aa_ref": "N",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6011,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 2583,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878904.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.635A>G",
"hgvs_p": "p.Asn212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548963.1",
"strand": true,
"transcript": "ENST00000878904.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 795,
"aa_ref": "N",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6437,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 2388,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683197.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507641.1",
"strand": true,
"transcript": "ENST00000683197.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 794,
"aa_ref": "N",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": 845,
"cds_end": null,
"cds_length": 2385,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950082.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.437A>G",
"hgvs_p": "p.Asn146Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620141.1",
"strand": true,
"transcript": "ENST00000950082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 768,
"aa_ref": "N",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 2307,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001441300.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428229.1",
"strand": true,
"transcript": "NM_001441300.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 768,
"aa_ref": "N",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 2307,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939029.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609088.1",
"strand": true,
"transcript": "ENST00000939029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 767,
"aa_ref": "N",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 2304,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001441301.1",
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