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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: 2-219570357-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219570357&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219570357,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015311.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "NM_015311.3",
"protein_id": "NP_056126.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1896,
"cds_start": 876,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404537.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015311.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000404537.6",
"protein_id": "ENSP00000385636.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 1896,
"cds_start": 876,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015311.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404537.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000373873.8",
"protein_id": "ENSP00000362980.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 1025,
"cds_start": 876,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373873.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953546.1",
"protein_id": "ENSP00000623605.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1900,
"cds_start": 876,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953546.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953548.1",
"protein_id": "ENSP00000623607.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1877,
"cds_start": 876,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953548.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953544.1",
"protein_id": "ENSP00000623603.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1823,
"cds_start": 876,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953544.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000373876.5",
"protein_id": "ENSP00000362983.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 1804,
"cds_start": 876,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373876.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953550.1",
"protein_id": "ENSP00000623609.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1785,
"cds_start": 876,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953550.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953545.1",
"protein_id": "ENSP00000623604.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1712,
"cds_start": 876,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953545.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953549.1",
"protein_id": "ENSP00000623608.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1616,
"cds_start": 876,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953549.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "NM_001173431.2",
"protein_id": "NP_001166902.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1543,
"cds_start": 876,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173431.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000603926.5",
"protein_id": "ENSP00000474519.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 1543,
"cds_start": 876,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603926.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000953547.1",
"protein_id": "ENSP00000623606.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1430,
"cds_start": 876,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953547.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "NM_001173408.2",
"protein_id": "NP_001166879.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1025,
"cds_start": 876,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173408.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_011510857.3",
"protein_id": "XP_011509159.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1918,
"cds_start": 876,
"cds_end": null,
"cds_length": 5757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510857.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_017003696.3",
"protein_id": "XP_016859185.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1908,
"cds_start": 876,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003696.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_017003697.3",
"protein_id": "XP_016859186.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1908,
"cds_start": 876,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003697.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_017003698.2",
"protein_id": "XP_016859187.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1826,
"cds_start": 876,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003698.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_017003699.2",
"protein_id": "XP_016859188.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1826,
"cds_start": 876,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003699.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_017003700.2",
"protein_id": "XP_016859189.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1734,
"cds_start": 876,
"cds_end": null,
"cds_length": 5205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003700.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_011510863.4",
"protein_id": "XP_011509165.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1543,
"cds_start": 876,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510863.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Arg292Arg",
"transcript": "XM_011510864.3",
"protein_id": "XP_011509166.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1493,
"cds_start": 876,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.48,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Moderate",
"BP7",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "NM_015311.3",
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"effects": [
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{
"score": -10,
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"criteria": [
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000489456.1",
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}