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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: 18-23601263-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23601263&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKRD29",
"hgnc_id": 27110,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_173505.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1498,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17249247431755066,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 906,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_173505.4",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000592179.6",
"protein_coding": true,
"protein_id": "NP_775776.2",
"strand": false,
"transcript": "NM_173505.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 906,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000592179.6",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173505.4",
"protein_coding": true,
"protein_id": "ENSP00000468354.1",
"strand": false,
"transcript": "ENST00000592179.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 829,
"cds_end": null,
"cds_length": 810,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965701.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.773G>T",
"hgvs_p": "p.Arg258Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635760.1",
"strand": false,
"transcript": "ENST00000965701.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 951,
"cds_end": null,
"cds_length": 807,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001308238.2",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295167.1",
"strand": false,
"transcript": "NM_001308238.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 855,
"cds_end": null,
"cds_length": 807,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000322980.13",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323387.9",
"strand": false,
"transcript": "ENST00000322980.13",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 807,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863695.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533754.1",
"strand": false,
"transcript": "ENST00000863695.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 807,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863696.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533755.1",
"strand": false,
"transcript": "ENST00000863696.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 963,
"cds_end": null,
"cds_length": 807,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863698.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533757.1",
"strand": false,
"transcript": "ENST00000863698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 951,
"cds_end": null,
"cds_length": 807,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863700.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533759.1",
"strand": false,
"transcript": "ENST00000863700.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 264,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 962,
"cds_end": null,
"cds_length": 795,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863697.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.758G>T",
"hgvs_p": "p.Arg253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533756.1",
"strand": false,
"transcript": "ENST00000863697.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 236,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 806,
"cds_end": null,
"cds_length": 711,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965702.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.674G>T",
"hgvs_p": "p.Arg225Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635761.1",
"strand": false,
"transcript": "ENST00000965702.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 847,
"cds_end": null,
"cds_length": 708,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863701.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533760.1",
"strand": false,
"transcript": "ENST00000863701.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 696,
"cds_end": null,
"cds_length": 708,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863704.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533763.1",
"strand": false,
"transcript": "ENST00000863704.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 845,
"cds_end": null,
"cds_length": 708,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863705.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533764.1",
"strand": false,
"transcript": "ENST00000863705.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 851,
"cds_end": null,
"cds_length": 708,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965698.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635757.1",
"strand": false,
"transcript": "ENST00000965698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 745,
"cds_end": null,
"cds_length": 708,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965700.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635759.1",
"strand": false,
"transcript": "ENST00000965700.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 756,
"cds_end": null,
"cds_length": 612,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863706.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Arg192Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533765.1",
"strand": false,
"transcript": "ENST00000863706.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 202,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 740,
"cds_end": null,
"cds_length": 609,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863702.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.572G>T",
"hgvs_p": "p.Arg191Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533761.1",
"strand": false,
"transcript": "ENST00000863702.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 202,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 716,
"cds_end": null,
"cds_length": 609,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863703.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.572G>T",
"hgvs_p": "p.Arg191Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533762.1",
"strand": false,
"transcript": "ENST00000863703.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 202,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 748,
"cds_end": null,
"cds_length": 609,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863707.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.572G>T",
"hgvs_p": "p.Arg191Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533766.1",
"strand": false,
"transcript": "ENST00000863707.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 170,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 583,
"cds_end": null,
"cds_length": 513,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965699.1",
"gene_hgnc_id": 27110,
"gene_symbol": "ANKRD29",
"hgvs_c": "c.476G>T",
"hgvs_p": "p.Arg159Leu",
"intron_rank": null,
"intron_rank_end": null,
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