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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: 11-75268955-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75268955&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARRB1",
"hgnc_id": 711,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Val343Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_004041.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 90,
"alphamissense_prediction": null,
"alphamissense_score": 0.856,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6801816821098328,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7352,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004041.5",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Val343Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000420843.7",
"protein_coding": true,
"protein_id": "NP_004032.2",
"strand": false,
"transcript": "NM_004041.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7352,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000420843.7",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Val343Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004041.5",
"protein_coding": true,
"protein_id": "ENSP00000409581.2",
"strand": false,
"transcript": "ENST00000420843.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000360025.7",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353124.3",
"strand": false,
"transcript": "ENST00000360025.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 476,
"aa_ref": "V",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952726.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Val401Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622785.1",
"strand": false,
"transcript": "ENST00000952726.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 446,
"aa_ref": "V",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952725.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622784.1",
"strand": false,
"transcript": "ENST00000952725.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000862393.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532452.1",
"strand": false,
"transcript": "ENST00000862393.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862394.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Val343Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532453.1",
"strand": false,
"transcript": "ENST00000862394.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 437,
"aa_ref": "V",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928507.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598566.1",
"strand": false,
"transcript": "ENST00000928507.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 434,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862395.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532454.1",
"strand": false,
"transcript": "ENST00000862395.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7328,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_020251.4",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_064647.1",
"strand": false,
"transcript": "NM_020251.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1221,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862396.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532455.1",
"strand": false,
"transcript": "ENST00000862396.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 403,
"aa_ref": "V",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1212,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952724.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Val328Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622783.1",
"strand": false,
"transcript": "ENST00000952724.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 398,
"aa_ref": "V",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1197,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862397.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532456.1",
"strand": false,
"transcript": "ENST00000862397.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 398,
"aa_ref": "V",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1197,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952727.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622786.1",
"strand": false,
"transcript": "ENST00000952727.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 382,
"aa_ref": "V",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1149,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000862392.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532451.1",
"strand": false,
"transcript": "ENST00000862392.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 194,
"aa_ref": "V",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": 476,
"cds_end": null,
"cds_length": 585,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000532447.5",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436530.1",
"strand": false,
"transcript": "ENST00000532447.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 473,
"aa_ref": "V",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7478,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017017750.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Val374Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873239.1",
"strand": false,
"transcript": "XM_017017750.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 465,
"aa_ref": "V",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7454,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017017751.1",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Val366Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873240.1",
"strand": false,
"transcript": "XM_017017751.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7406,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011545034.2",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Val374Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543336.1",
"strand": false,
"transcript": "XM_011545034.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7424,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017017752.3",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Val343Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873241.1",
"strand": false,
"transcript": "XM_017017752.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 441,
"aa_ref": "V",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7382,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011545035.2",
"gene_hgnc_id": 711,
"gene_symbol": "ARRB1",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Val366Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
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