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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: 1-179378732-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179378732&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179378732,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144696.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "NM_144696.6",
"protein_id": "NP_653297.3",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1012,
"cds_start": 470,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367618.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144696.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "ENST00000367618.8",
"protein_id": "ENSP00000356590.3",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 1012,
"cds_start": 470,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144696.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367618.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.272A>C",
"hgvs_p": "p.His91Pro",
"transcript": "ENST00000434088.1",
"protein_id": "ENSP00000391716.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 872,
"cds_start": 272,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.470A>C",
"hgvs_p": null,
"transcript": "ENST00000511157.5",
"protein_id": "ENSP00000424373.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511157.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "ENST00000617277.4",
"protein_id": "ENSP00000482167.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 470,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617277.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.His115Pro",
"transcript": "ENST00000509175.5",
"protein_id": "ENSP00000425019.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 150,
"cds_start": 344,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509175.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.His115Pro",
"transcript": "ENST00000511889.5",
"protein_id": "ENSP00000425198.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 122,
"cds_start": 344,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511889.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509165.2",
"protein_id": "XP_011507467.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1014,
"cds_start": 470,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509165.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509166.4",
"protein_id": "XP_011507468.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1014,
"cds_start": 470,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509166.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509167.4",
"protein_id": "XP_011507469.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1014,
"cds_start": 470,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509167.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509168.2",
"protein_id": "XP_011507470.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1014,
"cds_start": 470,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509168.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.407A>C",
"hgvs_p": "p.His136Pro",
"transcript": "XM_011509169.2",
"protein_id": "XP_011507471.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 993,
"cds_start": 407,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509169.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509170.2",
"protein_id": "XP_011507472.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 978,
"cds_start": 470,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509170.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.His115Pro",
"transcript": "XM_011509171.2",
"protein_id": "XP_011507473.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 972,
"cds_start": 344,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509171.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.His115Pro",
"transcript": "XM_024453104.2",
"protein_id": "XP_024308872.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 972,
"cds_start": 344,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453104.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.His115Pro",
"transcript": "XM_024453107.2",
"protein_id": "XP_024308875.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 972,
"cds_start": 344,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453107.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509174.2",
"protein_id": "XP_011507476.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 940,
"cds_start": 470,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509174.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509175.2",
"protein_id": "XP_011507477.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 938,
"cds_start": 470,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509175.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509176.2",
"protein_id": "XP_011507478.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 915,
"cds_start": 470,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509176.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509178.3",
"protein_id": "XP_011507480.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 815,
"cds_start": 470,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509178.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_011509180.2",
"protein_id": "XP_011507482.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 797,
"cds_start": 470,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509180.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.His157Pro",
"transcript": "XM_047444817.1",
"protein_id": "XP_047300773.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 655,
"cds_start": 470,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444817.1"
},
{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_144696.6",
"gene_symbol": "AXDND1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}