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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: 1-75794151-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75794151&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75794151,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004582.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Ile258Thr",
"transcript": "NM_004582.4",
"protein_id": "NP_004573.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 331,
"cds_start": 773,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319942.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004582.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Ile258Thr",
"transcript": "ENST00000319942.8",
"protein_id": "ENSP00000317473.3",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 331,
"cds_start": 773,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004582.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319942.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Ile260Thr",
"transcript": "ENST00000935155.1",
"protein_id": "ENSP00000605214.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 333,
"cds_start": 779,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935155.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Ile257Thr",
"transcript": "ENST00000935145.1",
"protein_id": "ENSP00000605204.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 330,
"cds_start": 770,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935145.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Ile254Thr",
"transcript": "ENST00000935144.1",
"protein_id": "ENSP00000605203.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 327,
"cds_start": 761,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935144.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Ile234Thr",
"transcript": "ENST00000935156.1",
"protein_id": "ENSP00000605215.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 307,
"cds_start": 701,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935156.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Ile222Thr",
"transcript": "ENST00000872421.1",
"protein_id": "ENSP00000542480.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 295,
"cds_start": 665,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872421.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Ile216Thr",
"transcript": "ENST00000935146.1",
"protein_id": "ENSP00000605205.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 289,
"cds_start": 647,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935146.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000935154.1",
"protein_id": "ENSP00000605213.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 276,
"cds_start": 608,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935154.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.593T>C",
"hgvs_p": "p.Ile198Thr",
"transcript": "ENST00000964019.1",
"protein_id": "ENSP00000634078.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 271,
"cds_start": 593,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964019.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"transcript": "ENST00000872422.1",
"protein_id": "ENSP00000542481.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 265,
"cds_start": 575,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872422.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Ile168Thr",
"transcript": "ENST00000935150.1",
"protein_id": "ENSP00000605209.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 241,
"cds_start": 503,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935150.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000935148.1",
"protein_id": "ENSP00000605207.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 229,
"cds_start": 467,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935148.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000935147.1",
"protein_id": "ENSP00000605206.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 223,
"cds_start": 449,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935147.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.377T>C",
"hgvs_p": "p.Ile126Thr",
"transcript": "ENST00000935153.1",
"protein_id": "ENSP00000605212.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 199,
"cds_start": 377,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935153.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Ile60Thr",
"transcript": "ENST00000935151.1",
"protein_id": "ENSP00000605210.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 133,
"cds_start": 179,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.706-359T>C",
"hgvs_p": null,
"transcript": "ENST00000935149.1",
"protein_id": "ENSP00000605208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.310-359T>C",
"hgvs_p": null,
"transcript": "ENST00000935157.1",
"protein_id": "ENSP00000605216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.112-359T>C",
"hgvs_p": null,
"transcript": "ENST00000935152.1",
"protein_id": "ENSP00000605211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.770T>C",
"hgvs_p": null,
"transcript": "ENST00000459697.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000459697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.1761T>C",
"hgvs_p": null,
"transcript": "ENST00000471759.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000471759.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.3457T>C",
"hgvs_p": null,
"transcript": "ENST00000496055.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000496055.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.1046T>C",
"hgvs_p": null,
"transcript": "NR_073562.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_073562.1"
}
],
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"dbsnp": "rs142398042",
"frequency_reference_population": 0.0000020525536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205255,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8953654170036316,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.71,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8243,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.979,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004582.4",
"gene_symbol": "RABGGTB",
"hgnc_id": 9796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Ile258Thr"
}
],
"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
}