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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: 6-87521475-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87521475&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87521475,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000369536.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Met342Val",
"transcript": "NM_020320.5",
"protein_id": "NP_064716.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 578,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "ENST00000369536.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Met342Val",
"transcript": "ENST00000369536.10",
"protein_id": "ENSP00000358549.5",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 578,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "NM_020320.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Met342Val",
"transcript": "ENST00000687437.1",
"protein_id": "ENSP00000508968.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 608,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Met342Val",
"transcript": "NM_001350505.2",
"protein_id": "NP_001337434.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 588,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Met342Val",
"transcript": "ENST00000691725.1",
"protein_id": "ENSP00000509453.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 588,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000451155.2",
"protein_id": "ENSP00000389656.2",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 441,
"cds_start": 499,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001350506.2",
"protein_id": "NP_001337435.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 413,
"cds_start": 499,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000693431.1",
"protein_id": "ENSP00000509147.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 413,
"cds_start": 499,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001318785.2",
"protein_id": "NP_001305714.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001350507.2",
"protein_id": "NP_001337436.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001350508.2",
"protein_id": "NP_001337437.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001350509.2",
"protein_id": "NP_001337438.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001350510.2",
"protein_id": "NP_001337439.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "NM_001350511.2",
"protein_id": "NP_001337440.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
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"cdna_start": 1394,
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"cdna_length": 2582,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000685408.1",
"protein_id": "ENSP00000509026.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000689174.1",
"protein_id": "ENSP00000510542.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
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"cds_start": 499,
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"cdna_start": 1277,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000692684.1",
"protein_id": "ENSP00000509712.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000693327.1",
"protein_id": "ENSP00000509195.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Met167Val",
"transcript": "ENST00000687729.1",
"protein_id": "ENSP00000508582.1",
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"aa_start": 167,
"aa_end": null,
"aa_length": 384,
"cds_start": 499,
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"cdna_start": 1265,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000686154.1",
"protein_id": "ENSP00000508436.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
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"cds_start": 85,
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"cdna_start": 1342,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000689206.1",
"protein_id": "ENSP00000510495.1",
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"aa_end": null,
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"cds_start": 85,
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"cdna_start": 1322,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000690622.1",
"protein_id": "ENSP00000508528.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 275,
"cds_start": 85,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000685701.1",
"protein_id": "ENSP00000509573.1",
"transcript_support_level": null,
"aa_start": 29,
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}
],
"gene_symbol": "RARS2",
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"dbsnp": "rs387907048",
"frequency_reference_population": 0.0000037330474,
"hom_count_reference_population": 0,
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"computational_score_selected": 0.8355731964111328,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.406,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1609,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.741,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "Pontocerebellar hypoplasia type 6,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Pontocerebellar hypoplasia type 6|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}