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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: 16-56758639-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56758639&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56758639,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014669.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "NM_014669.5",
"protein_id": "NP_055484.3",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 819,
"cds_start": 281,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308159.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014669.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000308159.10",
"protein_id": "ENSP00000310668.5",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 819,
"cds_start": 281,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014669.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308159.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000569842.5",
"protein_id": "ENSP00000458101.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 880,
"cds_start": 281,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569842.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923937.1",
"protein_id": "ENSP00000593996.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 820,
"cds_start": 281,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923937.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923939.1",
"protein_id": "ENSP00000593998.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 820,
"cds_start": 281,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923939.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873113.1",
"protein_id": "ENSP00000543172.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 819,
"cds_start": 281,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873113.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923938.1",
"protein_id": "ENSP00000593997.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 819,
"cds_start": 281,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923938.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000961440.1",
"protein_id": "ENSP00000631499.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 819,
"cds_start": 281,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961440.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000961443.1",
"protein_id": "ENSP00000631502.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 819,
"cds_start": 281,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961443.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923931.1",
"protein_id": "ENSP00000593990.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 817,
"cds_start": 281,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923931.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873103.1",
"protein_id": "ENSP00000543162.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 800,
"cds_start": 281,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873103.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873108.1",
"protein_id": "ENSP00000543167.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 800,
"cds_start": 281,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873108.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873111.1",
"protein_id": "ENSP00000543170.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 794,
"cds_start": 281,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873111.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873107.1",
"protein_id": "ENSP00000543166.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 791,
"cds_start": 281,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873107.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873106.1",
"protein_id": "ENSP00000543165.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 785,
"cds_start": 281,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873106.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923933.1",
"protein_id": "ENSP00000593992.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 780,
"cds_start": 281,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923933.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873105.1",
"protein_id": "ENSP00000543164.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 776,
"cds_start": 281,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873105.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000873112.1",
"protein_id": "ENSP00000543171.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 755,
"cds_start": 281,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873112.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923932.1",
"protein_id": "ENSP00000593991.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 755,
"cds_start": 281,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923932.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923935.1",
"protein_id": "ENSP00000593994.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 748,
"cds_start": 281,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923935.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923940.1",
"protein_id": "ENSP00000593999.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 740,
"cds_start": 281,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923940.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP93",
"gene_hgnc_id": 28958,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000923936.1",
"protein_id": "ENSP00000593995.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 722,
"cds_start": 281,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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}
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}