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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: 1-161362355-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161362355&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161362355,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000367975.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000342751.8",
"protein_id": "ENSP00000356952.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 150,
"cds_start": 268,
"cds_end": null,
"cds_length": 453,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn",
"transcript": "ENST00000513009.5",
"protein_id": "ENSP00000423260.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 116,
"cds_start": 166,
"cds_end": null,
"cds_length": 351,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Lys144Lys",
"transcript": "NM_003001.5",
"protein_id": "NP_002992.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 169,
"cds_start": 432,
"cds_end": null,
"cds_length": 510,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": "ENST00000367975.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Lys144Lys",
"transcript": "ENST00000367975.7",
"protein_id": "ENSP00000356953.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 169,
"cds_start": 432,
"cds_end": null,
"cds_length": 510,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": "NM_003001.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Lys110Lys",
"transcript": "ENST00000432287.6",
"protein_id": "ENSP00000390558.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 135,
"cds_start": 330,
"cds_end": null,
"cds_length": 408,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000392169.6",
"protein_id": "ENSP00000376009.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 116,
"cds_start": 273,
"cds_end": null,
"cds_length": 351,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "NM_001035511.3",
"protein_id": "NP_001030588.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 150,
"cds_start": 268,
"cds_end": null,
"cds_length": 453,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "NM_001407121.1",
"protein_id": "NP_001394050.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 131,
"cds_start": 211,
"cds_end": null,
"cds_length": 396,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn",
"transcript": "NM_001278172.3",
"protein_id": "NP_001265101.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 116,
"cds_start": 166,
"cds_end": null,
"cds_length": 351,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Asp53Asn",
"transcript": "ENST00000515731.2",
"protein_id": "ENSP00000519353.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 113,
"cds_start": 157,
"cds_end": null,
"cds_length": 342,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Lys184Lys",
"transcript": "NM_001407115.1",
"protein_id": "NP_001394044.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 209,
"cds_start": 552,
"cds_end": null,
"cds_length": 630,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Lys154Lys",
"transcript": "ENST00000714063.1",
"protein_id": "ENSP00000519354.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 179,
"cds_start": 462,
"cds_end": null,
"cds_length": 540,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Lys125Lys",
"transcript": "NM_001407116.1",
"protein_id": "NP_001394045.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 150,
"cds_start": 375,
"cds_end": null,
"cds_length": 453,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Lys123Lys",
"transcript": "NM_001407117.1",
"protein_id": "NP_001394046.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 148,
"cds_start": 369,
"cds_end": null,
"cds_length": 447,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Lys110Lys",
"transcript": "NM_001035512.3",
"protein_id": "NP_001030589.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 135,
"cds_start": 330,
"cds_end": null,
"cds_length": 408,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Lys108Lys",
"transcript": "NM_001407118.1",
"protein_id": "NP_001394047.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 133,
"cds_start": 324,
"cds_end": null,
"cds_length": 402,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Lys107Lys",
"transcript": "NM_001407119.1",
"protein_id": "NP_001394048.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 132,
"cds_start": 321,
"cds_end": null,
"cds_length": 399,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Lys107Lys",
"transcript": "NM_001407120.1",
"protein_id": "NP_001394049.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 132,
"cds_start": 321,
"cds_end": null,
"cds_length": 399,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Lys107Lys",
"transcript": "ENST00000714064.1",
"protein_id": "ENSP00000519355.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 132,
"cds_start": 321,
"cds_end": null,
"cds_length": 399,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Lys107Lys",
"transcript": "ENST00000714065.1",
"protein_id": "ENSP00000519356.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 132,
"cds_start": 321,
"cds_end": null,
"cds_length": 399,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Lys107Lys",
"transcript": "ENST00000714066.1",
"protein_id": "ENSP00000519357.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 132,
"cds_start": 321,
"cds_end": null,
"cds_length": 399,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Lys91Lys",
"transcript": "NM_001035513.3",
"protein_id": "NP_001030590.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 116,
"cds_start": 273,
"cds_end": null,
"cds_length": 351,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "n.*433G>A",
"hgvs_p": null,
"transcript": "ENST00000470743.5",
"protein_id": "ENSP00000482902.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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},
{
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},
{
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{
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{
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}
],
"gene_symbol": "SDHC",
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"dbsnp": "rs1366410028",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19703662395477295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3199999928474426,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.227,
"revel_prediction": "Benign",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.7,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000367975.7",
"gene_symbol": "SDHC",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Lys144Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}