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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: 18-23601268-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23601268&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23601268,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173505.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Ile288Met",
"transcript": "NM_173505.4",
"protein_id": "NP_775776.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 301,
"cds_start": 864,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": "ENST00000592179.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173505.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Ile288Met",
"transcript": "ENST00000592179.6",
"protein_id": "ENSP00000468354.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 301,
"cds_start": 864,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": "NM_173505.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592179.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.768A>G",
"hgvs_p": "p.Ile256Met",
"transcript": "ENST00000965701.1",
"protein_id": "ENSP00000635760.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 269,
"cds_start": 768,
"cds_end": null,
"cds_length": 810,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965701.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Ile255Met",
"transcript": "NM_001308238.2",
"protein_id": "NP_001295167.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 268,
"cds_start": 765,
"cds_end": null,
"cds_length": 807,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308238.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Ile255Met",
"transcript": "ENST00000322980.13",
"protein_id": "ENSP00000323387.9",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 268,
"cds_start": 765,
"cds_end": null,
"cds_length": 807,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322980.13"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Ile255Met",
"transcript": "ENST00000863695.1",
"protein_id": "ENSP00000533754.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 268,
"cds_start": 765,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863695.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Ile255Met",
"transcript": "ENST00000863696.1",
"protein_id": "ENSP00000533755.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 268,
"cds_start": 765,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863696.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Ile255Met",
"transcript": "ENST00000863698.1",
"protein_id": "ENSP00000533757.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 268,
"cds_start": 765,
"cds_end": null,
"cds_length": 807,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863698.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Ile255Met",
"transcript": "ENST00000863700.1",
"protein_id": "ENSP00000533759.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 268,
"cds_start": 765,
"cds_end": null,
"cds_length": 807,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863700.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ile251Met",
"transcript": "ENST00000863697.1",
"protein_id": "ENSP00000533756.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 264,
"cds_start": 753,
"cds_end": null,
"cds_length": 795,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863697.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.669A>G",
"hgvs_p": "p.Ile223Met",
"transcript": "ENST00000965702.1",
"protein_id": "ENSP00000635761.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 236,
"cds_start": 669,
"cds_end": null,
"cds_length": 711,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965702.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.666A>G",
"hgvs_p": "p.Ile222Met",
"transcript": "ENST00000863701.1",
"protein_id": "ENSP00000533760.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 235,
"cds_start": 666,
"cds_end": null,
"cds_length": 708,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863701.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.666A>G",
"hgvs_p": "p.Ile222Met",
"transcript": "ENST00000863704.1",
"protein_id": "ENSP00000533763.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 235,
"cds_start": 666,
"cds_end": null,
"cds_length": 708,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863704.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.666A>G",
"hgvs_p": "p.Ile222Met",
"transcript": "ENST00000863705.1",
"protein_id": "ENSP00000533764.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 235,
"cds_start": 666,
"cds_end": null,
"cds_length": 708,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863705.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.666A>G",
"hgvs_p": "p.Ile222Met",
"transcript": "ENST00000965698.1",
"protein_id": "ENSP00000635757.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 235,
"cds_start": 666,
"cds_end": null,
"cds_length": 708,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965698.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.666A>G",
"hgvs_p": "p.Ile222Met",
"transcript": "ENST00000965700.1",
"protein_id": "ENSP00000635759.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 235,
"cds_start": 666,
"cds_end": null,
"cds_length": 708,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965700.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ile190Met",
"transcript": "ENST00000863706.1",
"protein_id": "ENSP00000533765.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 203,
"cds_start": 570,
"cds_end": null,
"cds_length": 612,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863706.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.567A>G",
"hgvs_p": "p.Ile189Met",
"transcript": "ENST00000863702.1",
"protein_id": "ENSP00000533761.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 567,
"cds_end": null,
"cds_length": 609,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863702.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.567A>G",
"hgvs_p": "p.Ile189Met",
"transcript": "ENST00000863703.1",
"protein_id": "ENSP00000533762.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 567,
"cds_end": null,
"cds_length": 609,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863703.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.567A>G",
"hgvs_p": "p.Ile189Met",
"transcript": "ENST00000863707.1",
"protein_id": "ENSP00000533766.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 567,
"cds_end": null,
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"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863707.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.471A>G",
"hgvs_p": "p.Ile157Met",
"transcript": "ENST00000965699.1",
"protein_id": "ENSP00000635758.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 170,
"cds_start": 471,
"cds_end": null,
"cds_length": 513,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965699.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.456A>G",
"hgvs_p": "p.Ile152Met",
"transcript": "ENST00000965703.1",
"protein_id": "ENSP00000635762.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 165,
"cds_start": 456,
"cds_end": null,
"cds_length": 498,
"cdna_start": 559,
"cdna_end": null,
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"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}