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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: 20-19935125-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19935125&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 19935125,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001378238.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "NM_018993.4",
"protein_id": "NP_061866.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255006.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018993.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000255006.12",
"protein_id": "ENSP00000255006.7",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018993.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255006.12"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000440354.2",
"protein_id": "ENSP00000391239.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 462,
"cds_start": 84,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440354.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.1C>G",
"hgvs_p": null,
"transcript": "ENST00000484638.1",
"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": "ENST00000484638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.-462C>G",
"hgvs_p": null,
"transcript": "NM_001378238.1",
"protein_id": "NP_001365167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": null,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.-221C>G",
"hgvs_p": null,
"transcript": "XM_047440216.1",
"protein_id": "XP_047296172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": null,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.-238C>G",
"hgvs_p": null,
"transcript": "XM_011529259.3",
"protein_id": "XP_011527561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529259.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.-249C>G",
"hgvs_p": null,
"transcript": "XM_017027892.2",
"protein_id": "XP_016883381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027892.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.231C>G",
"hgvs_p": "p.Ile77Met",
"transcript": "NM_001242581.2",
"protein_id": "NP_001229510.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 944,
"cds_start": 231,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242581.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944194.1",
"protein_id": "ENSP00000614253.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 906,
"cds_start": 84,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944194.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000648440.1",
"protein_id": "ENSP00000498085.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648440.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000891327.1",
"protein_id": "ENSP00000561386.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891327.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000891328.1",
"protein_id": "ENSP00000561387.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891328.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000891329.1",
"protein_id": "ENSP00000561388.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891329.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944192.1",
"protein_id": "ENSP00000614251.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944192.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944193.1",
"protein_id": "ENSP00000614252.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944193.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944195.1",
"protein_id": "ENSP00000614254.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944195.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944196.1",
"protein_id": "ENSP00000614255.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944196.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944197.1",
"protein_id": "ENSP00000614256.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944197.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944198.1",
"protein_id": "ENSP00000614257.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944198.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944199.1",
"protein_id": "ENSP00000614258.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944199.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ile28Met",
"transcript": "ENST00000944200.1",
"protein_id": "ENSP00000614259.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 895,
"cds_start": 84,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
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"feature": "ENST00000467569.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.276C>G",
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"transcript": "ENST00000488077.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000488077.1"
}
],
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"dbsnp": "rs181853315",
"frequency_reference_population": 6.896409e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.89641e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4743942320346832,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.2311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.784,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378238.1",
"gene_symbol": "RIN2",
"hgnc_id": 18750,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-462C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}