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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: 22-45332489-GT-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45332489&ref=GT&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM118A",
"hgnc_id": 1313,
"hgvs_c": "c.758_759delGTinsTA",
"hgvs_p": "p.Arg253Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001349916.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"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": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017911.4",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000441876.7",
"protein_coding": true,
"protein_id": "NP_060381.2",
"strand": true,
"transcript": "NM_017911.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441876.7",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017911.4",
"protein_coding": true,
"protein_id": "ENSP00000395892.2",
"strand": true,
"transcript": "ENST00000441876.7",
"transcript_support_level": 1
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 267,
"aa_ref": "S*",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": 832,
"cds_end": null,
"cds_length": 804,
"cds_start": 801,
"consequences": [
"stop_lost"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441432.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.801_802delGTinsTA",
"hgvs_p": "p.Ter268Argext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297388.1",
"strand": true,
"transcript": "XM_047441432.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1116,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349916.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.758_759delGTinsTA",
"hgvs_p": "p.Arg253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336845.1",
"strand": true,
"transcript": "NM_001349916.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1077,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349914.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.719_720delGTinsTA",
"hgvs_p": "p.Arg240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336843.1",
"strand": true,
"transcript": "NM_001349914.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1077,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894424.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.719_720delGTinsTA",
"hgvs_p": "p.Arg240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564483.1",
"strand": true,
"transcript": "ENST00000894424.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1077,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894426.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.719_720delGTinsTA",
"hgvs_p": "p.Arg240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564485.1",
"strand": true,
"transcript": "ENST00000894426.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 1077,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951640.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.719_720delGTinsTA",
"hgvs_p": "p.Arg240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621699.1",
"strand": true,
"transcript": "ENST00000951640.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1077,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951649.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.719_720delGTinsTA",
"hgvs_p": "p.Arg240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621708.1",
"strand": true,
"transcript": "ENST00000951649.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001104595.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098065.1",
"strand": true,
"transcript": "NM_001104595.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349913.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336842.1",
"strand": true,
"transcript": "NM_001349913.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216214.7",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000216214.3",
"strand": true,
"transcript": "ENST00000216214.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894427.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564486.1",
"strand": true,
"transcript": "ENST00000894427.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894428.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564487.1",
"strand": true,
"transcript": "ENST00000894428.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915811.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585870.1",
"strand": true,
"transcript": "ENST00000915811.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915815.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585874.1",
"strand": true,
"transcript": "ENST00000915815.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951641.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621700.1",
"strand": true,
"transcript": "ENST00000951641.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951648.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621707.1",
"strand": true,
"transcript": "ENST00000951648.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951650.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621709.1",
"strand": true,
"transcript": "ENST00000951650.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1074,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951651.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621710.1",
"strand": true,
"transcript": "ENST00000951651.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1044,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951647.1",
"gene_hgnc_id": 1313,
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