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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: 1-75745823-GT-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75745823&ref=GT&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACADM",
"hgnc_id": 89,
"hgvs_c": "c.716_717delGTinsTA",
"hgvs_p": "p.Arg239Leu",
"inheritance_mode": "AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_001286043.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP2",
"acmg_score": 13,
"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": "1",
"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": 421,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1266,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000016.6",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370841.9",
"protein_coding": true,
"protein_id": "NP_000007.1",
"strand": true,
"transcript": "NM_000016.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1266,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370841.9",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000016.6",
"protein_coding": true,
"protein_id": "ENSP00000359878.5",
"strand": true,
"transcript": "ENST00000370841.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1365,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370834.9",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"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": "ENSP00000359871.5",
"strand": true,
"transcript": "ENST00000370834.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1278,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420607.6",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.629_630delGTinsTA",
"hgvs_p": "p.Arg210Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409612.2",
"strand": true,
"transcript": "ENST00000420607.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1170,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541113.6",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442324.2",
"strand": true,
"transcript": "ENST00000541113.6",
"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": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526196.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*385_*386delGTinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431953.1",
"strand": true,
"transcript": "ENST00000526196.5",
"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": 1149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000534334.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*201_*202delGTinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435584.1",
"strand": true,
"transcript": "ENST00000534334.5",
"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": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526196.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*385_*386delGTinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431953.1",
"strand": true,
"transcript": "ENST00000526196.5",
"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": 1149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000534334.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*201_*202delGTinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435584.1",
"strand": true,
"transcript": "ENST00000534334.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1365,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286043.2",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"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_001272972.1",
"strand": true,
"transcript": "NM_001286043.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1362,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879989.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.713_714delGTinsTA",
"hgvs_p": "p.Arg238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550048.1",
"strand": true,
"transcript": "ENST00000879989.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1314,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879990.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.665_666delGTinsTA",
"hgvs_p": "p.Arg222Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550049.1",
"strand": true,
"transcript": "ENST00000879990.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1278,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127328.3",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.629_630delGTinsTA",
"hgvs_p": "p.Arg210Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120800.1",
"strand": true,
"transcript": "NM_001127328.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1266,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927351.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597410.1",
"strand": true,
"transcript": "ENST00000927351.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1263,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879991.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550050.1",
"strand": true,
"transcript": "ENST00000879991.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1263,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956292.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.614_615delGTinsTA",
"hgvs_p": "p.Arg205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626351.1",
"strand": true,
"transcript": "ENST00000956292.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1260,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879987.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550046.1",
"strand": true,
"transcript": "ENST00000879987.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1185,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879995.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.536_537delGTinsTA",
"hgvs_p": "p.Arg179Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550054.1",
"strand": true,
"transcript": "ENST00000879995.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1158,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286042.2",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.509_510delGTinsTA",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272971.1",
"strand": true,
"transcript": "NM_001286042.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 378,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1137,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879992.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550051.1",
"strand": true,
"transcript": "ENST00000879992.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 374,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1125,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680805.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.617_618delGTinsTA",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
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