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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: 19-45678134-GAG-AAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45678134&ref=GAG&alt=AAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GIPR",
"hgnc_id": 4271,
"hgvs_c": "c.1060_1062delGAGinsAAA",
"hgvs_p": "p.Glu354Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000164.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 466,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000164.4",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1060_1062delGAGinsAAA",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000590918.6",
"protein_coding": true,
"protein_id": "NP_000155.1",
"strand": true,
"transcript": "NM_000164.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 466,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590918.6",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1060_1062delGAGinsAAA",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000164.4",
"protein_coding": true,
"protein_id": "ENSP00000467494.1",
"strand": true,
"transcript": "ENST00000590918.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 430,
"aa_ref": "E",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1293,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304207.12",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.952_954delGAGinsAAA",
"hgvs_p": "p.Glu318Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305321.8",
"strand": true,
"transcript": "ENST00000304207.12",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 419,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263281.7",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1060_1062delGAGinsAAA",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263281.3",
"strand": true,
"transcript": "ENST00000263281.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000585889.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "n.*131_*133delGAGinsAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467342.1",
"strand": true,
"transcript": "ENST00000585889.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000585889.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "n.*131_*133delGAGinsAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467342.1",
"strand": true,
"transcript": "ENST00000585889.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953334.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1024_1026delGAGinsAAA",
"hgvs_p": "p.Glu342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623393.1",
"strand": true,
"transcript": "ENST00000953334.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 430,
"aa_ref": "E",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1293,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308418.2",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.952_954delGAGinsAAA",
"hgvs_p": "p.Glu318Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295347.1",
"strand": true,
"transcript": "NM_001308418.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 405,
"aa_ref": "E",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3404,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1218,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652180.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.877_879delGAGinsAAA",
"hgvs_p": "p.Glu293Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498426.1",
"strand": true,
"transcript": "ENST00000652180.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 383,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3135,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1152,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953335.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.811_813delGAGinsAAA",
"hgvs_p": "p.Glu271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623394.1",
"strand": true,
"transcript": "ENST00000953335.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 366,
"aa_ref": "E",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1101,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953333.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.760_762delGAGinsAAA",
"hgvs_p": "p.Glu254Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623392.1",
"strand": true,
"transcript": "ENST00000953333.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "E",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526709.3",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1186_1188delGAGinsAAA",
"hgvs_p": "p.Glu396Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525011.1",
"strand": true,
"transcript": "XM_011526709.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "E",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3517,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526710.3",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1186_1188delGAGinsAAA",
"hgvs_p": "p.Glu396Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525012.1",
"strand": true,
"transcript": "XM_011526710.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 472,
"aa_ref": "E",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438599.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1078_1080delGAGinsAAA",
"hgvs_p": "p.Glu360Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294555.1",
"strand": true,
"transcript": "XM_047438599.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 466,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3472,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438600.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1060_1062delGAGinsAAA",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294556.1",
"strand": true,
"transcript": "XM_047438600.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1278,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526713.3",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.937_939delGAGinsAAA",
"hgvs_p": "p.Glu313Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525015.1",
"strand": true,
"transcript": "XM_011526713.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 415,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438601.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.1060_1062delGAGinsAAA",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294557.1",
"strand": true,
"transcript": "XM_047438601.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 369,
"aa_ref": "E",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1110,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526715.3",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.769_771delGAGinsAAA",
"hgvs_p": "p.Glu257Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525017.1",
"strand": true,
"transcript": "XM_011526715.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591224.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "n.516_518delGAGinsAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000591224.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 291,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": null,
"cds_end": null,
"cds_length": 876,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526716.3",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.*237_*239delGAGinsAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525018.1",
"strand": true,
"transcript": "XM_011526716.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438602.1",
"gene_hgnc_id": 4271,
"gene_symbol": "GIPR",
"hgvs_c": "c.*237_*239delGAGinsAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}