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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: 13-48303942-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48303942&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48303942,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000321.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "NM_000321.3",
"protein_id": "NP_000312.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 928,
"cds_start": 30,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267163.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000321.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000267163.6",
"protein_id": "ENSP00000267163.4",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 928,
"cds_start": 30,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000321.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267163.6"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000467505.6",
"protein_id": "ENSP00000434702.1",
"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": "ENST00000467505.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000924352.1",
"protein_id": "ENSP00000594411.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 969,
"cds_start": 30,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924352.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000859511.1",
"protein_id": "ENSP00000529570.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 924,
"cds_start": 30,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859511.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "NM_001407165.1",
"protein_id": "NP_001394094.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 923,
"cds_start": 30,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407165.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000650461.1",
"protein_id": "ENSP00000497193.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 923,
"cds_start": 30,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650461.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000941076.1",
"protein_id": "ENSP00000611135.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 922,
"cds_start": 30,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941076.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000713858.1",
"protein_id": "ENSP00000519163.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 893,
"cds_start": 30,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713858.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000859510.1",
"protein_id": "ENSP00000529569.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 889,
"cds_start": 30,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859510.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000713857.1",
"protein_id": "ENSP00000519162.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 877,
"cds_start": 30,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713857.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000713856.1",
"protein_id": "ENSP00000519161.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 851,
"cds_start": 30,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713856.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "NM_001407166.1",
"protein_id": "NP_001394095.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 568,
"cds_start": 30,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407166.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "NM_001407167.1",
"protein_id": "NP_001394096.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 103,
"cds_start": 30,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407167.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000646097.1",
"protein_id": "ENSP00000496556.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 103,
"cds_start": 30,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646097.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.192C>T",
"hgvs_p": null,
"transcript": "ENST00000525036.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000525036.1"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000713859.1",
"protein_id": "ENSP00000519164.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000713859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-219G>A",
"hgvs_p": null,
"transcript": "ENST00000433480.4",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000433480.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-222G>A",
"hgvs_p": null,
"transcript": "ENST00000436963.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000436963.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-219G>A",
"hgvs_p": null,
"transcript": "ENST00000700890.2",
"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": "ENST00000700890.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-219G>A",
"hgvs_p": null,
"transcript": "ENST00000718572.1",
"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": "ENST00000718572.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-246G>A",
"hgvs_p": null,
"transcript": "ENST00000718573.1",
"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": "ENST00000718573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "RB1-DT",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
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{
"score": -11,
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": -10,
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"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000433480.4",
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],
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}
],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Retinoblastoma|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}