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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: 1-243512402-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243512402&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243512402,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005465.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "NM_005465.7",
"protein_id": "NP_005456.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 479,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673466.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005465.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "ENST00000673466.1",
"protein_id": "ENSP00000500582.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 479,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005465.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673466.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "ENST00000263826.12",
"protein_id": "ENSP00000263826.5",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 479,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263826.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "ENST00000336199.9",
"protein_id": "ENSP00000336943.5",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 465,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336199.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "ENST00000366540.5",
"protein_id": "ENSP00000355498.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 465,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366540.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "NM_001370074.1",
"protein_id": "NP_001357003.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 479,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370074.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "NM_001206729.2",
"protein_id": "NP_001193658.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 465,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206729.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu",
"transcript": "NM_181690.2",
"protein_id": "NP_859029.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 465,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181690.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Val403Leu",
"transcript": "ENST00000366539.6",
"protein_id": "ENSP00000355497.2",
"transcript_support_level": 5,
"aa_start": 403,
"aa_end": null,
"aa_length": 456,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366539.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1150G>C",
"hgvs_p": "p.Val384Leu",
"transcript": "ENST00000680056.1",
"protein_id": "ENSP00000505337.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 437,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680056.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "ENST00000672578.1",
"protein_id": "ENSP00000500597.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 418,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672578.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "XM_047417359.1",
"protein_id": "XP_047273315.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 418,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417359.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "XM_047419186.1",
"protein_id": "XP_047275142.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 418,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419186.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "XM_047420641.1",
"protein_id": "XP_047276597.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 418,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420641.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "XM_047422391.1",
"protein_id": "XP_047278347.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 418,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422391.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "XM_047424332.1",
"protein_id": "XP_047280288.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 418,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424332.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.586G>C",
"hgvs_p": "p.Val196Leu",
"transcript": "XM_011544014.3",
"protein_id": "XP_011542316.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 249,
"cds_start": 586,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544014.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.1033G>C",
"hgvs_p": null,
"transcript": "ENST00000672460.1",
"protein_id": "ENSP00000499842.1",
"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": "ENST00000672460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.2287G>C",
"hgvs_p": null,
"transcript": "ENST00000679831.1",
"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": "retained_intron",
"feature": "ENST00000679831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.1276G>C",
"hgvs_p": null,
"transcript": "ENST00000680118.1",
"protein_id": "ENSP00000505276.1",
"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": "ENST00000680118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.164G>C",
"hgvs_p": null,
"transcript": "ENST00000681055.1",
"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": "retained_intron",
"feature": "ENST00000681055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.*491G>C",
"hgvs_p": null,
"transcript": "ENST00000681794.1",
"protein_id": "ENSP00000506399.1",
"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": "ENST00000681794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.*491G>C",
"hgvs_p": null,
"transcript": "ENST00000681794.1",
"protein_id": "ENSP00000506399.1",
"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": "ENST00000681794.1"
}
],
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"dbsnp": "rs868556430",
"frequency_reference_population": null,
"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": 0.39829927682876587,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.267,
"revel_prediction": "Benign",
"alphamissense_score": 0.9287,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005465.7",
"gene_symbol": "AKT3",
"hgnc_id": 393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Val426Leu"
}
],
"clinvar_disease": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}